SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes:
AATK, ABCA10, ABCA5, ABCA6, ABCA8, ABCA9, ABCC3, ABHD15, ABI3, ABR, AC005544.1, AC040977.1, AC087645.1, AC090616.2, ACACA, ACAP1, ACBD4, ACE, ACLY, ACOX1, ACSF2, ACTG1, ADAM11, AIPL1, ALDH3A1, ALDH3A2, ALOX12, ALOX15, ALOX15B, ALOXE3, AMZ2, ANKFN1, ANKFY1, AOC3, AP2B1, ARHGAP23, ARHGEF15, ARL16, ARL5C, ARRB2, ARSG, ASB16, ASGR1, ASIC2, ASPA, ASPSCR1, ATP1B2, ATP2A3, AURKB, AXIN2, AZI1, B3GNTL1, B4GALNT2, B9D1, BCAS3, BCL6B, BHLHA9, BIRC5, BRIP1, BZRAP1, C17orf100, C17orf102, C17orf103, C17orf47, C17orf49, C17orf53, C17orf58, C17orf59, C17orf67, C17orf70, C17orf72, C17orf74, C17orf77, C17orf80, C17orf82, C17orf96, C17orf97, C17orf98, C17orf99, C1QBP, C1QTNF1, CACNA1G, CACNG5, CALCOCO2, CAMKK1, CAMTA2, CARD14, CASC3, CASKIN2, CBX2, CBX8, CCDC137, CCDC144NL, CCDC40, CCDC57, CCL15, CCL23, CCL4, CCL4L1, CCT6B, CD300A, CD300E, CD300LB, CD300LD, CD300LF, CD7, CD79B, CDC27, CDK5RAP3, CDR2L, CDRT1, CDRT15, CDRT4, CENPV, CEP112, CHRNB1, CISD3, CLDN7, CLEC10A, CLUH, CNTNAP1, COASY, COIL, COL1A1, COPRS, COPS3, CORO6, COX10, CSF3, CSHL1, CTC1, CTDNEP1, CTNS, CUEDC1, CXCL16, DBF4B, DCAF7, DCAKD, DDX52, DGKE, DHRS13, DHX33, DHX58, DLG4, DNAH17, DNAH17-AS1, DNAH2, DNAH9, DNAI2, DNAJC7, DOC2B, DPH1, DRG2, DVL2, EFCAB13, EFCAB5, EFTUD2, EIF4A1, EIF4A3, EIF5A, EME1, ENDOV, ENGASE, ENO3, ENPP7, ENTHD2, EPN2, EPN3, EPX, ERAL1, ERBB2, ERN1, EVI2A, EVPL, EVPLL, FADS6, FAM20A, FAM215A, FASN, FBF1, FBXO39, FBXO47, FBXW10, FDXR, FLII, FMNL1, FN3K, FN3KRP, FNDC8, FOXK2, FSCN2, FTSJ3, GAA, GAS2L2, GAST, GCGR, GEMIN4, GFAP, GGNBP2, GGT6, GID4, GIP, GIT1, GJD3, GLP2R, GLTPD2, GNGT2, GOSR2, GPATCH8, GPR142, GPS2, GRB7, GRIN2C, GSDMA, GSG2, HAP1, HDAC5, HELZ, HGS, HID1, HIGD1B, HOXB1, HOXB3, HOXB5, HOXB7, HS3ST3B1, HSD17B1, HSF5, HSPB9, ICT1, IFI35, INTS2, ITGA2B, ITGA3, ITGAE, ITGB4, JUP, KAT7, KCNH6, KCNJ12, KDM6B, KIAA0195, KIAA0753, KIF19, KIF1C, KIF2B, KLHL10, KLHL11, KPNA2, KRT10, KRT12, KRT13, KRT14, KRT15, KRT19, KRT25, KRT27, KRT28, KRT31, KRT32, KRT33A, KRT35, KRT36, KRT37, KRT38, KRT39, KRT40, KRTAP16-1, KRTAP17-1, KRTAP29-1, KRTAP4-1, KRTAP4-11, KRTAP4-2, KRTAP4-3, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP4-9, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-8, KSR1, LASP1, LGALS3BP, LGALS9, LGALS9B, LLGL1, LLGL2, LRRC37A3, LRRC3C, LYZL6, MAP2K3, MAP2K6, MARCH10, MED13, MED24, MEOX1, METRNL, METTL2A, MFSD6L, MGAT5B, MIEF2, MINK1, MKS1, MLLT6, MLX, MMP28, MPO, MPP2, MPP3, MPRIP, MRC2, MRPL38, MRPS7, MTMR4, MYADML2, MYBBP1A, MYCBPAP, MYH1, MYH10, MYH13, MYH3, MYH8, MYO15A, MYO15B, MYO18A, MYO19, MYO1C, MYO1D, NAGLU, NAGS, NBR1, NCOR1, NEURL4, NF1, NKIRAS2, NLE1, NLGN2, NLRP1, NMT1, NOL11, NPLOC4, NPTX1, NSF, NSRP1, NT5C, NT5C3B, NUP85, NUP88, ODF4, OGFOD3, OR1A1, OR1A2, OR1D5, OR1E1, OR1E2, OR3A1, OR3A2, OR3A3, OR4D1, OSBPL7, OTOP3, P2RX5, P4HB, PCGF2, PCTP, PDE6G, PELP1, PEMT, PER1, PFAS, PGAP3, PGS1, PIK3R6, PIP4K2B, PITPNM3, PLCD3, PLD2, PLEKHH3, PLXDC1, PMP22, PNPO, POLDIP2, POLR2A, PPM1E, PPP1R9B, PRKAR1A, PRKCA, PRPF8, PRPSAP1, PRPSAP2, PSMB6, PSMC5, PSMD12, PSMD3, PTGES3L-AARSD1, PYCR1, PYY, QRICH2, RAB5C, RABEP1, RAI1, RAP1GAP2, RBFOX3, RECQL5, RFNG, RHBDF2, RHOT1, RNF135, RNF157, RNF213, RNF222, RNF43, RNFT1, RP11-1055B8.7, RP11-1407O15.2, RP11-51L5.7, RPA1, RPAIN, RPL19, RPRML, RPTOR, RSAD1, RTN4RL1, RUNDC1, SARM1, SAT2, SCARF1, SCN4A, SCRN2, SDK2, SEC14L1, SECTM1, SENP3, SEPT4, SEPT9, SERPINF1, SERPINF2, SEZ6, SGSH, SHMT1, SHPK, SIRT7, SKAP1, SLC13A2, SLC13A5, SLC16A13, SLC16A3, SLC16A5, SLC16A6, SLC25A10, SLC25A19, SLC25A39, SLC26A11, SLC2A4, SLC35G6, SLC38A10, SLC39A11, SLC46A1, SLC47A2, SLC52A1, SLC5A10, SLC9A3R1, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, SMCR8, SMG6, SMG8, SMTNL2, SMURF2, SMYD4, SNF8, SOX9, SP2, SPATA20, SPATA22, SPATA32, SPECC1, SPHK1, SPNS3, SPPL2C, SREBF1, SRP68, SRSF2, STARD3, STRA13, STX8, STXBP4, SUPT6H, SYNGR2, SYNRG, TADA2A, TANC2, TAOK1, TAX1BP3, TBC1D16, TBC1D28, TBC1D3, TBC1D3B, TBC1D3H, TBCD, TBKBP1, TBX2, TCAP, TEKT1, TEKT3, TEX14, TEX19, THRA, TK1, TLCD2, TLK2, TM4SF5, TMC6, TMC8, TMEM104, TMEM105, TMEM107, TMEM235, TMEM256-PLSCR3, TMEM92, TMEM99, TMUB2, TNFRSF13B, TNFSF12, TNFSF12-TNFSF13, TNK1, TNRC6C, TNS4, TOB1, TOP3A, TP53, TRIM16, TRIM16L, TRIM25, TRIM65, TRPV1, TRPV3, TSEN54, TSPAN10, TTLL6, TTYH2, TUBD1, TUBG1, TUBG2, TUSC5, TVP23B, UBALD2, UBE2Z, UBTF, ULK2, UNK, USP22, USP36, USP6, UTP18, UTS2R, VEZF1, VMO1, VPS25, VPS53, VTN, WDR16, WDR81, WFIKKN2, WIPI1, WNT9B, WRAP53, WSB1, WSCD1, XAF1, XYLT2, YBX2, ZACN, ZMYND15, ZNF18, ZNF286A, ZNF286B, ZNF385C, ZNF594, ZNF652, ZNF750, ZNF830, ZZEF1,

Genes at Omim

ABCA5, ACACA, ACE, ACOX1, ACTG1, AIPL1, ALDH3A2, ALOXE3, ARSG, ASPA, ASPSCR1, AXIN2, B9D1, BHLHA9, BRIP1, C1QBP, CACNA1G, CARD14, CBX2, CCDC40, CD79B, CHRNB1, CNTNAP1, COASY, COL1A1, COX10, CTC1, CTNS, DGKE, DNAH9, DNAI2, DPH1, EFTUD2, ENO3, EPX, ERAL1, ERBB2, FAM20A, FDXR, FSCN2, GAA, GCGR, GEMIN4, GFAP, GOSR2, HOXB1, ITGA2B, ITGA3, ITGB4, JUP, KIAA0753, KIF1C, KLHL10, KRT10, KRT12, KRT13, KRT14, KRT25, MEOX1, MKS1, MPO, MRPS7, MYH3, MYH8, MYO15A, NAGLU, NAGS, NF1, NLRP1, NUP85, P4HB, PDE6G, PGAP3, PITPNM3, PMP22, PNPO, PRKAR1A, PRKCA, PRPF8, PSMD12, PYCR1, QRICH2, RAI1, RHBDF2, RNF213, RNF43, SCN4A, SEPT9, SERPINF1, SGSH, SHPK, SLC13A5, SLC25A19, SLC46A1, SLC52A1, SLC9A3R1, SLFN14, SOX9, TBCD, TBX2, TCAP, TEX14, THRA, TLK2, TMC6, TMC8, TMEM107, TNFRSF13B, TOP3A, TP53, TRPV3, TSEN54, TUBG1, UBTF, VPS53, WDR81, WRAP53, XYLT2, ZMYND15, ZNF750,
ABCA5 ?Hypertrichosis, congenital generalized, with gingival hyperplasia, 135400 (3)
ACACA Acetyl-CoA carboxylase deficiency, 613933 (1)
ACE {Microvascular complications of diabetes 3}, 612624 (3)
{Myocardial infarction, susceptibility to} (3)
{SARS, progression of} (3)
{Stroke, hemorrhagic}, 614519 (3)
Renal tubular dysgenesis, 267430 (3)
[Angiotensin I-converting enzyme, benign serum increase] (3)
ACOX1 Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
ACTG1 Baraitser-Winter syndrome 2, 614583 (3)
Deafness, autosomal dominant 20/26, 604717 (3)
AIPL1 Cone-rod dystrophy, 604393 (3)
Leber congenital amaurosis 4, 604393 (3)
Retinitis pigmentosa, juvenile, 604393 (3)
ALDH3A2 Sjogren-Larsson syndrome, 270200 (3)
ALOXE3 Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
ARSG Usher syndrome, type IV, 618144 (3)
ASPA Canavan disease, 271900 (3)
ASPSCR1 Alveolar soft-part sarcoma, 606243 (3)
AXIN2 Colorectal cancer, somatic, 114500 (3)
Oligodontia-colorectal cancer syndrome, 608615 (3)
B9D1 Joubert syndrome 27, 617120 (3)
?Meckel syndrome 9, 614209 (3)
BHLHA9 ?Camptosynpolydactyly, complex, 607539 (3)
Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 (3)
BRIP1 Fanconi anemia, complementation group J, 609054 (3)
{Breast cancer, early-onset, susceptibility to}, 114480 (3)
C1QBP Combined oxidative phosphorylation deficiency 33, 617713 (3)
CACNA1G Spinocerebellar ataxia 42, 616795 (3)
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 (3)
CARD14 Pityriasis rubra pilaris, 173200 (3)
Psoriasis 2, 602723 (3)
CBX2 ?46XY sex reversal 5, 613080 (3)
CCDC40 Ciliary dyskinesia, primary, 15, 613808 (3)
CD79B Agammaglobulinemia 6, 612692 (3)
CHRNB1 Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3)
?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 (3)
CNTNAP1 Hypomyelinating neuropathy, congenital, 3, 618186 (3)
Lethal congenital contracture syndrome 7, 616286 (3)
COASY Neurodegeneration with brain iron accumulation 6, 615643 (3)
Pontocerebellar hypoplasia, type 12, 618266 (3)
COL1A1 Caffey disease, 114000 (3)
Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3)
Osteogenesis imperfecta, type I, 166200 (3)
Osteogenesis imperfecta, type II, 166210 (3)
Osteogenesis imperfecta, type III, 259420 (3)
Osteogenesis imperfecta, type IV, 166220 (3)
{Bone mineral density variation QTL, osteoporosis}, 166710 (3)
COX10 Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)
Mitochondrial complex IV deficiency, 220110 (3)
CTC1 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
CTNS Cystinosis, atypical nephropathic, 219800 (3)
Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3)
Cystinosis, nephropathic, 219800 (3)
Cystinosis, ocular nonnephropathic, 219750 (3)
DGKE {Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3)
Nephrotic syndrome, type 7, 615008 (3)
DNAH9 Ciliary dyskinesia, primary, 40, 618300 (3)
DNAI2 Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3)
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3)
ENO3 ?Glycogen storage disease XIII, 612932 (3)
EPX [Eosinophil peroxidase deficiency], 261500 (3)
ERAL1 Perrault syndrome 6, 617565 (3)
ERBB2 Adenocarcinoma of lung, somatic, 211980 (3)
Gastric cancer, somatic, 613659 (3)
Glioblastoma, somatic, 137800 (3)
Ovarian cancer, somatic, (3)
FAM20A Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3)
FDXR Auditory neuropathy and optic atrophy, 617717 (3)
FSCN2 Retinitis pigmentosa 30, 607921 (3)
GAA Glycogen storage disease II, 232300 (3)
GCGR {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
GEMIN4 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3)
GFAP Alexander disease, 203450 (3)
GOSR2 Epilepsy, progressive myoclonic 6, 614018 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (3)
ITGA2B Glanzmann thrombasthenia, 273800 (3)
Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)
ITGA3 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3)
ITGB4 Epidermolysis bullosa of hands and feet, 131800 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
JUP Arrhythmogenic right ventricular dysplasia 12, 611528 (3)
Naxos disease, 601214 (3)
KIAA0753 ?Orofaciodigital syndrome XV, 617127 (3)
KIF1C Spastic ataxia 2, autosomal recessive, 611302 (3)
KLHL10 Spermatogenic failure 11, 615081 (3)
KRT10 Ichthyosis with confetti, 609165 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Epidermolytic hyperkeratosis, 113800 (3)
KRT12 Meesmann corneal dystrophy, 122100 (3)
KRT13 White sponge nevus 2, 615785 (3)
KRT14 Dermatopathia pigmentosa reticularis, 125595 (3)
Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)
Epidermolysis bullosa simplex, Koebner type, 131900 (3)
Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3)
KRT25 Woolly hair, autosomal recessive 3, 616760 (3)
MEOX1 Klippel-Feil syndrome 2, 214300 (3)
MKS1 Bardet-Biedl syndrome 13, 615990 (3)
Joubert syndrome 28, 617121 (3)
Meckel syndrome 1, 249000 (3)
MPO {Lung cancer, protection against, in smokers} (3)
Myeloperoxidase deficiency, 254600 (3)
{Alzheimer disease, susceptibility to}, 104300 (3)
MRPS7 ?Combined oxidative phosphorylation deficiency 34, 617872 (3)
MYH3 Arthrogryposis, distal, type 2A, 193700 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
Arthrogryposis, distal, type 8, 178110 (3)
MYH8 Carney complex variant, 608837 (3)
Trismus-pseudocamptodactyly syndrome, 158300 (3)
MYO15A Deafness, autosomal recessive 3, 600316 (3)
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)
?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3)
NAGS N-acetylglutamate synthase deficiency, 237310 (3)
NF1 Leukemia, juvenile myelomonocytic, 607785 (3)
Neurofibromatosis, familial spinal, 162210 (3)
Neurofibromatosis, type 1, 162200 (3)
Neurofibromatosis-Noonan syndrome, 601321 (3)
Watson syndrome, 193520 (3)
NLRP1 Autoinflammation with arthritis and dyskeratosis, 617388 (3)
{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3)
Palmoplantar carcinoma, multiple self-healing, 615225 (3)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
P4HB Cole-Carpenter syndrome 1, 112240 (3)
PDE6G Retinitis pigmentosa 57, 613582 (3)
PGAP3 Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)
PITPNM3 Cone-rod dystrophy 5, 600977 (3)
PMP22 Charcot-Marie-Tooth disease, type 1A, 118220 (3)
Charcot-Marie-Tooth disease, type 1E, 118300 (3)
Dejerine-Sottas disease, 145900 (3)
Neuropathy, recurrent, with pressure palsies, 162500 (3)
?Neuropathy, inflammatory demyelinating, 139393 (3)
Roussy-Levy syndrome, 180800 (3)
PNPO Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
PRKAR1A Adrenocortical tumor, somatic, (3)
Carney complex, type 1, 160980 (3)
Acrodysostosis 1, with or without hormone resistance, 101800 (3)
Myxoma, intracardiac, 255960 (3)
Pigmented nodular adrenocortical disease, primary, 1, 610489 (3)
PRKCA Pituitary tumor, invasive (3)
PRPF8 Retinitis pigmentosa 13, 600059 (3)
PSMD12 Stankiewicz-Isidor syndrome, 617516 (3)
PYCR1 Cutis laxa, autosomal recessive, type IIB, 612940 (3)
Cutis laxa, autosomal recessive, type IIIB, 614438 (3)
QRICH2 Spermatogenic failure 35, 618341 (3)
RAI1 Smith-Magenis syndrome, 182290 (3)
RHBDF2 Tylosis with esophageal cancer, 148500 (3)
RNF213 {Moyamoya disease 2, susceptibility to}, 607151 (3)
RNF43 Sessile serrated polyposis cancer syndrome, 617108 (3)
SCN4A Hyperkalemic periodic paralysis, type 2, 170500 (3)
Hypokalemic periodic paralysis, type 2, 613345 (3)
Myasthenic syndrome, congenital, 16, 614198 (3)
Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3)
Paramyotonia congenita, 168300 (3)
SEPT9 Amyotrophy, hereditary neuralgic, 162100 (3)
Leukemia, acute myeloid, therapy-related (1)
Ovarian carcinoma (1)
SERPINF1 Osteogenesis imperfecta, type VI, 613982 (3)
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3)
SHPK [Sedoheptulokinase deficiency], 617213 (3)
SLC13A5 Epileptic encephalopathy, early infantile, 25, 615905 (3)
SLC25A19 Microcephaly, Amish type, 607196 (3)
Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SLC52A1 Riboflavin deficiency, 615026 (3)
SLC9A3R1 Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3)
SLFN14 Bleeding disorder, platelet-type, 20, 616913 (3)
SOX9 Campomelic dysplasia with autosomal sex reversal, 114290 (3)
Campomelic dysplasia, 114290 (3)
Acampomelic campomelic dysplasia, 114290 (3)
TBCD Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3)
TBX2 Vertebral anomalies and variable endocrine and T-cell dysfunction, 618223 (3)
TCAP Cardiomyopathy, hypertrophic, 25, 607487 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3)
TEX14 ?Spermatogenic failure 23, 617707 (3)
THRA Hypothyroidism, congenital, nongoitrous, 6, 614450 (3)
TLK2 Mental retardation, autosomal dominant 57, 618050 (3)
TMC6 Epidermodysplasia verruciformis, 226400 (3)
TMC8 Epidermodysplasia verruciformis 2, 618231 (3)
TMEM107 Meckel syndrome 13, 617562 (3)
Orofaciodigital syndrome XVI, 617563 (3)
?Joubert syndrome 29, 617562 (3)
TNFRSF13B Immunodeficiency, common variable, 2, 240500 (3)
Immunoglobulin A deficiency 2, 609529 (3)
TOP3A Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 (3)
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 (3)
TP53 {Glioma susceptibility 1}, 137800 (3)
Bone marrow failure syndrome 5, 618165 (3)
Breast cancer, somatic, 114480 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
{Osteosarcoma}, 259500 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, somatic, 607107 (3)
Pancreatic cancer, somatic 260350 (3)
{Adrenocortical carcinoma, pediatric}, 202300 (3)
{Basal cell carcinoma 7}, 614740 (3)
{Choroid plexus papilloma}, 260500 (3)
{Colorectal cancer}, 114500 (3)
TRPV3 Olmsted syndrome, 614594 (3)
?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3)
TSEN54 Pontocerebellar hypoplasia type 2A, 277470 (3)
Pontocerebellar hypoplasia type 4, 225753 (3)
?Pontocerebellar hypoplasia type 5, 610204 (3)
TUBG1 Cortical dysplasia, complex, with other brain malformations 4, 615412 (3)
UBTF Neurodegeneration, childhood-onset, with brain atrophy, 617672 (3)
VPS53 Pontocerebellar hypoplasia, type 2E, 615851 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3)
WRAP53 Dyskeratosis congenita, autosomal recessive 3, 613988 (3)
XYLT2 {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
Spondyloocular syndrome, 605822 (3)
ZMYND15 ?Spermatogenic failure 14, 615842 (3)
ZNF750 Seborrhea-like dermatitis with psoriasiform elements, 610227 (3)

Genes at Clinical Genomics Database

ABCA5, ACE, ACOX1, ACTG1, AIPL1, ALDH3A2, ALOXE3, ASPA, AXIN2, B9D1, BHLHA9, BRIP1, CACNA1G, CARD14, CBX2, CCDC137, CCDC40, CD79B, CHRNB1, CNTNAP1, COASY, COL1A1, COX10, CTC1, CTNS, DGKE, DNAI2, DPH1, EFTUD2, EIF4A3, ENO3, EPX, FAM20A, FSCN2, GAA, GFAP, GOSR2, HOXB1, ITGA2B, ITGA3, ITGB4, JUP, KIF1C, KLHL10, KRT10, KRT12, KRT13, KRT14, KRT25, MEOX1, MKS1, MPO, MYH3, MYH8, MYO15A, NAGLU, NAGS, NF1, NLRP1, P4HB, PDE6G, PGAP3, PITPNM3, PMP22, PNPO, PRKAR1A, PRPF8, PYCR1, RAI1, RHBDF2, RNF135, RNF213, SCN4A, SEPT9, SERPINF1, SERPINF2, SGSH, SLC13A5, SLC25A19, SLC46A1, SLC52A1, SLC9A3R1, SLFN14, SOX9, TCAP, THRA, TMC6, TMC8, TNFRSF13B, TP53, TRPV3, TSEN54, TUBG1, VPS53, WDR81, WRAP53, ZMYND15, ZNF750,
ABCA5 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia
ACE Renal tubular dysgenesis
ACE serum levels
ACOX1 Peroxisomal acyl-CoA oxidase deficiency
ACTG1 Deafness, autosomal dominant 20
Baraitser-Winter syndrome 2
AIPL1 Leber congenital amaurosis 4
Retinitis pigmentosa, juvenile, AIPL1-related
Cone-rod dystrophy, AIPL1-related
ALDH3A2 Sjogren-Larsson syndrome
ALOXE3 Ichthyosiform erythroderma, congenital, nonbullous, 1
ASPA Aspartoacylase deficiency (Canavan disease)
AXIN2 Oligodontia-colorectal cancer syndrome
B9D1 Meckel syndrome 9
BHLHA9 Syndactyly, mesoaxial synostotic, with phalangeal reduction
BRIP1 Breast cancer
Fanconi anemia, complementation group J
CACNA1G Spinocerebellar ataxia 42
CARD14 Psoriasis 2
CBX2 46,XY sex reversal 5
CCDC137 Schizophrenia
CCDC40 Ciliary dyskinesia, primary, 15
CD79B Agammaglobulinemia 6
CHRNB1 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Myasthenic syndrome, slow-channel congenital, 2A
CNTNAP1 Lethal congenital contracture syndrome 7
COASY Neurodegeneration with brain iron accumulation 6
COL1A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type VII, autosomal dominant
COX10 Mitochondrial complex IV deficiency
Leigh syndrome
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
CTNS Cystinosis
DGKE Nephrotic syndrome, type 7
DNAI2 Ciliary dyskinesia, primary, 9
DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type
Esophageal atresia, syndromic
EIF4A3 Richieri-Costa-Pereira Syndrome
ENO3 Glycogen storage disease XIII
EPX Eosinophil peroxidase deficiency
FAM20A Amelogenesis imperfecta, type IG (Enamel-renal syndrome)
FSCN2 Retinitis pigmentosa 30
GAA Glycogen storage disease II
GFAP Alexander disease
GOSR2 Epilepsy, progessive myoclonic 6
HOXB1 Facial paresis, hereditary congenital, 3
ITGA2B Glanzmann thrombasthenia
ITGA3 Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
ITGB4 Epidermolysis bullosa, junctional, with pyloric atresia
Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa simplex, Weber-Cockayne type
JUP Arrhythmogenic right ventricular dysplasia, familial, 12
Naxos disease
KIF1C Spastic ataxia 2, autosomal recessive
KLHL10 Spermatogenic failure 11
KRT10 Erythroderma, ichthyosiform, congenital reticular
Aaru disease
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis
Ichthyosis with confetti
KRT12 Meesmann corneal dystrophy
KRT13 White sponge nevus 2
KRT14 Epidermolysis bullosa simplex, autosomal recessive
Naegeli-Franceschetti-Jadassohn syndrome
Dermatopathia pigmentosa reticularis
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa simplex, Dowling-Meara type
KRT25 Woolly hair, autosomal recessive 3
MEOX1 Klippel-Feil syndrome 2
MKS1 Meckel syndrome 1
Bardet-Biedl syndrome 13
MPO Myeloperoxidase deficiency
MYH3 Arthrogryposis, distal, type 2A
Arthyrgryposis, distal, type 2B
Arthrogryposis, distal, type 8
MYH8 Carney complex variant
Arthrogryposis, distal, type 7
Trismus-pseudocamptodactyly syndrome
MYO15A Deafness, autosomal recessive 3
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B)
NAGS N-acetylglutamate synthase deficiency
NF1 Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
Watson syndrome
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
P4HB Cole Carpenter syndrome 1
PDE6G Retinitis pigmentosa 57
PGAP3 Hyperphosphatasia with mental retardation syndrome 4
PITPNM3 Cone-rod dystrophy 5
PMP22 Roussy-Levy syndrome
Charcot-Marie-Tooth syndrome, type 1A
Charcot-Marie-Tooth syndrome with deafness (type 1E)
Neuropathy, hereditary, with liability to pressurve palsies
Dejerine-Sottas disease
Neuropathy, inflammatory demyelinating
PNPO Individuals may manifest with severe seizures starting in the immediate neonatal period (or even before birth), and medical treatment (with pyridoxine) can be effective as an antiepileptic agent
PRKAR1A Pigmented nodular adrenocortical disease, primary, 1
Carney complex, type 1
Myxoma, intracardiac
Acrodysostosis 1, with or without hormone resistance
PRPF8 Retinitis pigmentosa 13
PYCR1 Cutis laxa, autosomal recessive, type IIB
Cutis laxa, autosomal recessive type IIIB
RAI1 Smith-Magenis syndrome
RHBDF2 Tylosis with esophageal cancer
RNF135 Macrocephaly, macrosomia, facial dysmorphism syndrome
RNF213 Moyamoya disease 2
SCN4A Paramyotonia congenita
Hyperkalemic periodic paralysis, type 2
Hypokalemic periodic paralysis, type 2
Normokalemic potassium-sensitive periodic paralysis
Malignant hyperthermia, susceptibility to
Myasthenic syndrome, congenital, 16
Myotonia, potassium-aggravated
SEPT9 Amyotrophy, hereditary neuralgic
SERPINF1 Osteogenesis imperfecta, type VI
SERPINF2 Alpha-2-plasmin inhibitor deficiency
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo syndrome A)
SLC13A5 Epileptic encephalopathy, early infantile 25
SLC25A19 Thiamine metabolism dysfunction syndrome 4
Microcephaly, Amish type
SLC46A1 Folate malabsorption, hereditary
SLC52A1 Maternal riboflavin deficiency
SLC9A3R1 Nephrolithiasis/osteoporosis, hypophosphatemic, 2
SLFN14 Bleeding disorder, platelet-type, 20
SOX9 46, XY sex reversal 10
Campomelic dysplasia
TCAP Cardiomyopathy, dilated, 1N
Cardiomyopathy, familial hypertrophic 25
Muscular dystrophy, limb-girdle, type 2G
THRA Hypothyroidism, congenital, nongoitrous, 6
TMC6 Epidermodysplasia verruciformis
TMC8 Epidermodysplasia verruciformis
TNFRSF13B Immunoglobulin A deficiency 2
Common variable immunodeficiency 2
TP53 Li-Fraumeni syndrome
Choroid plexus papilloma
Ependymoma, intracranial
Osteogenic sarcoma
Breast cancer, familial
Hepatoblastoma
Non-Hodgkin lymphoma
Adrenocortical carcinoma
Colorectal cancer
TRPV3 Olmsted syndrome
Palmoplantar keratoderma, nonepidermolytic focal 2
TSEN54 Pontocerebellar hypoplasia, type 2A
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
TUBG1 Cortical dysplasia, complex, with other brain malformations 4
VPS53 Pontocerebellar hypoplasia, type 2E
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WRAP53 Dyskeratosis congenita, autosomal recessive 3
ZMYND15 Spermatogenic failure 14
ZNF750 Seborrhea-like dermatitis with psoriasiform elements

Genes at HGMD

Summary

Number of Variants: 3770
Number of Genes: 591

Export to: CSV

AATK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs8082016
dbSNP Clinvar
79093275 373.16 G A PASS 1|0 13 NON_SYNONYMOUS_CODING MODERATE None 0.07149 0.07149 0.07311 0.13 0.47 None None None None None None AATK|0.00450864|86.39%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs7503604
dbSNP Clinvar
79095629 1930.92 C A PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.55651 0.55650 0.46455 0.17 0.00 None None None None None None AATK|0.00450864|86.39%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs8073904
dbSNP Clinvar
79095144 7288.9 G A PASS 1|1 76 SYNONYMOUS_CODING LOW None 0.80531 0.80530 0.14925 None None None None None None AATK|0.00450864|86.39%

ABCA10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs4968849
dbSNP Clinvar
67178316 2063.9 A G PASS 1|0 71 NON_SYNONYMOUS_CODING MODERATE None 0.71126 0.71130 0.24304 1.00 0.00 None None None None None None ABCA10|0.002179826|90.49%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs11077414
dbSNP Clinvar
67212031 785.16 A G PASS 1|0 67 SYNONYMOUS_CODING LOW None 0.06470 0.47140 0.42465 None None None None None None ABCA10|0.002179826|90.49%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs11657804
dbSNP Clinvar
67210992 229.14 T C PASS 1|0 13 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.26158 0.26160 0.29885 0.30 0.16 None None None None None None ABCA10|0.002179826|90.49%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs144869395
dbSNP Clinvar
67215746 920.16 C T PASS 1|0 51 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00046 0.54 0.05 None None None None None None ABCA10|0.002179826|90.49%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs12941264
dbSNP Clinvar
67215712 832.16 C T PASS 1|0 47 SYNONYMOUS_CODING LOW None 0.59844 0.59840 0.32759 None None None None None None ABCA10|0.002179826|90.49%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs9909216
dbSNP Clinvar
67212423 1883.16 G A PASS 1|0 106 NON_SYNONYMOUS_CODING MODERATE None 0.58067 0.58070 0.34515 0.03 0.03 None None None None None None ABCA10|0.002179826|90.49%

ABCA5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs536009
dbSNP Clinvar
67273882 6232.9 C A PASS 1|1 75 NON_SYNONYMOUS_CODING MODERATE None 0.80172 0.80170 0.22177 0.62 0.00 None None None None None None ABCA5|0.269145961|29.93%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs557491
dbSNP Clinvar
67267317 1156.16 T C PASS 1|1 29 NON_SYNONYMOUS_CODING MODERATE None 0.49740 0.49740 0.45794 0.49 0.00 None None None None None None ABCA5|0.269145961|29.93%

ABCA6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs7212506
dbSNP Clinvar
67101718 3419.13 C T PASS 1|1 53 NON_SYNONYMOUS_CODING MODERATE None 0.74780 0.74780 0.22058 0.42 0.00 None None None None None None ABCA6|0.006278632|84.32%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs4968839
dbSNP Clinvar
67125840 2330.9 C T PASS 1|0 86 NON_SYNONYMOUS_CODING MODERATE None 0.55511 0.55510 0.40099 0.35 0.00 None None None None None None ABCA6|0.006278632|84.32%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs2302134
dbSNP Clinvar
67081830 1567.16 T C PASS 1|0 75 NON_SYNONYMOUS_CODING MODERATE None 0.45986 0.45990 0.48539 0.16 0.05 None None None None None None ABCA6|0.006278632|84.32%

ABCA8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs1481
dbSNP Clinvar
66872802 5888.13 G C PASS 1|1 109 SYNONYMOUS_CODING LOW None 0.81350 0.81350 0.26980 None None None None None None ABCA8|0.008754907|81.9%

ABCA9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs2302291
dbSNP Clinvar
67028260 1764.13 T C PASS 1|1 19 SYNONYMOUS_CODING LOW None 0.40695 0.40690 0.47932 None None None None None None ABCA9|0.017284198|75.69%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs1860447
dbSNP Clinvar
67031457 4135.13 C T PASS 1|1 61 NON_SYNONYMOUS_CODING MODERATE None 0.85783 0.85780 0.14363 0.90 0.00 None None None None None None ABCA9|0.017284198|75.69%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs2302294
dbSNP Clinvar
66985992 5803.13 T G PASS 1|1 87 NON_SYNONYMOUS_CODING MODERATE None 0.41334 0.41330 0.48347 0.02 0.46 None None None None None None ABCA9|0.017284198|75.69%

ABCC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs1051640
dbSNP Clinvar
48768486 2520.16 A G PASS 0|1 114 SYNONYMOUS_CODING LOW None 0.10403 0.10400 0.14639 None None None None None None ABCC3|0.044769991|64.26%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs2277624
dbSNP Clinvar
48761105 467.16 C T PASS 0|1 18 SYNONYMOUS_CODING LOW None 0.28694 0.28690 0.26465 None None None None None None ABCC3|0.044769991|64.26%

ABHD15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs542939
dbSNP Clinvar
27889986 5457.16 T C PASS 1|0 135 NON_SYNONYMOUS_CODING MODERATE None 0.76797 0.76800 0.30571 1.00 0.00 None None None None None None ABHD15|0.102676834|50.66%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs721479
dbSNP Clinvar
27889963 2192.16 C G PASS 1|0 125 SYNONYMOUS_CODING LOW None 0.22284 0.22280 0.22328 None None None None None None ABHD15|0.102676834|50.66%

ABI3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs616338
dbSNP Clinvar
47297297 7389.9 T C PASS 1|1 80 NON_SYNONYMOUS_CODING MODERATE None 0.99840 0.99840 0.00701 1.00 0.00 None None None None None None ABI3|0.032000436|68.63%

ABR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs2262150
dbSNP Clinvar
970413 1410.13 C T PASS 1|1 30 SYNONYMOUS_CODING LOW None 0.89697 0.89700 0.13425 None None None None None None ABR|0.634601907|10.64%

AC005544.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs740555
dbSNP Clinvar
65027740 1843.16 G C PASS 1|0 72 NON_SYNONYMOUS_CODING MODERATE None 0.34984 0.34980 0.00 None None None None None None CACNG4|0.127367032|46.28%

AC040977.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs7338
dbSNP Clinvar
6917703 364.18 C T PASS 1|1 9 NON_SYNONYMOUS_CODING MODERATE None 0.76378 0.76380 0.07 0.92 None None None None None None RNASEK|0.057333942|60.59%,RNASEK-C17orf49|0.371919774|22.61%

AC087645.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs17879146
dbSNP Clinvar
76219945 158.5 T G PASS 1|1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00899 0.00899 0.00 0.71 None None None None None None BIRC5|0.935922721|2.64%

AC090616.2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs13342625
dbSNP Clinvar
30469423 977.55 C A PASS 0|1 22 SYNONYMOUS_CODING LOW None 0.31510 0.31510 None None None None None None None
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs751404391
dbSNP Clinvar
30469470 1187.86 CC... C,... PASS 1/2 10 GENE_FUSION_REVERESE HIGH None None None None None None None None

ACACA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs2229416
dbSNP Clinvar
35609866 6452.16 C T PASS 1|1 114 SYNONYMOUS_CODING LOW None 0.21985 0.21980 0.09726 None None None None None None ACACA|0.94269074|2.39%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs1470452
dbSNP Clinvar
35478362 10848.9 T C PASS 1|1 125 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00108 None None None None None None ACACA|0.94269074|2.39%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs58654829
dbSNP Clinvar
35696804 5526.9 G A PASS 1|1 46 SYNONYMOUS_CODING LOW None 0.58546 0.58550 0.34776 None None None None None None ACACA|0.94269074|2.39%

ACAP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs4796407
dbSNP Clinvar
7245371 1315.16 A G PASS 1|0 44 SYNONYMOUS_CODING LOW None 0.31490 0.31490 0.40697 None None None None None None ACAP1|0.086299912|53.89%

ACBD4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs143988275
dbSNP Clinvar
43220845 363.16 C G PASS 1|0 30 NON_SYNONYMOUS_CODING MODERATE None 0.00699 0.00699 0.00659 0.00 0.97 None None None None None None ACBD4|0.054594192|61.31%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs16939879
dbSNP Clinvar
43216472 4145.16 A G PASS 1|1 81 NON_SYNONYMOUS_CODING MODERATE None 0.08826 0.08826 0.10269 0.25 0.00 None None None None None None ACBD4|0.054594192|61.31%

ACE

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs4343
dbSNP Clinvar
61566031 2003.16 G A PASS 1|0 100 SYNONYMOUS_CODING LOW None 0.64317 0.64320 0.43987 None None None None None None ACE|0.894558224|3.56%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs4309
dbSNP Clinvar
61559923 2295.16 C T PASS 1|0 129 SYNONYMOUS_CODING LOW None 0.42352 0.42350 0.33569 None None None None None None ACE|0.894558224|3.56%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs4316
dbSNP Clinvar
61562309 837.16 C T PASS 1|0 42 SYNONYMOUS_CODING LOW None 0.51917 0.51920 0.42675 None None None None None None ACE|0.894558224|3.56%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs4331
dbSNP Clinvar
61564052 2812.16 A G PASS 1|0 113 SYNONYMOUS_CODING LOW None 0.52955 0.52960 0.44326 None None None None None None ACE|0.894558224|3.56%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs4362
dbSNP Clinvar
61573761 3789.16 T C PASS 1|0 194 SYNONYMOUS_CODING LOW None 0.58746 0.58750 0.49470 None None None None None None ACE|0.894558224|3.56%

ACLY

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs8065502
dbSNP Clinvar
40048613 5383.16 A G PASS 1|0 123 SYNONYMOUS_CODING LOW None 0.90435 0.90440 0.12479 None None None None None None ACLY|0.44685425|18.3%

ACOX1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs1135640
dbSNP Clinvar
73949540 7195.16 G C PASS 1|0 122 NON_SYNONYMOUS_CODING MODERATE None 0.55072 0.55070 0.49131 0.17 0.00 None None None None None None ACOX1|0.181440529|38.86%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs79677613
dbSNP Clinvar
73949555 2852.16 C T PASS 0|1 117 SYNONYMOUS_CODING LOW None 0.00599 0.00599 0.00923 None None None None None None ACOX1|0.181440529|38.86%

ACSF2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs9674937
dbSNP Clinvar
48539035 4134.16 T C PASS 1|1 79 SYNONYMOUS_CODING LOW None 0.34405 0.34400 0.37667 None None None None None None ACSF2|0.036236332|67.04%

ACTG1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs11549220
dbSNP Clinvar
79479115 2342.16 C T PASS 1|0 117 SYNONYMOUS_CODING LOW None 0.02596 0.02596 0.01146 None None None None None None ACTG1|0.983116739|1.38%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs1139405
dbSNP Clinvar
79478019 5481.16 G A PASS 0|1 132 SYNONYMOUS_CODING LOW None 0.75619 0.75620 0.24543 None None None None None None ACTG1|0.983116739|1.38%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs1135989
dbSNP Clinvar
79478007 1676.16 G A PASS 0|1 112 SYNONYMOUS_CODING LOW None 0.18530 0.18530 0.31639 None None None None None None ACTG1|0.983116739|1.38%

ADAM11

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs1558083
dbSNP Clinvar
42852604 2742.9 G T PASS 0|1 50 SYNONYMOUS_CODING LOW None 0.64557 0.64560 0.41950 -2.16 0.00 0.05606 T None None None None ADAM11|0.131633893|45.66%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs35936481
dbSNP Clinvar
42851729 664.64 C T PASS 0|1 13 SYNONYMOUS_CODING LOW None 0.64557 0.64560 0.40983 None None None None None None ADAM11|0.131633893|45.66%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs1558084
dbSNP Clinvar
42852610 5762.9 T C PASS 1|1 57 SYNONYMOUS_CODING LOW None 0.90495 0.90500 0.10518 None None None None None None ADAM11|0.131633893|45.66%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs8075210
dbSNP Clinvar
42854610 2379.9 T C PASS 0|1 50 SYNONYMOUS_CODING LOW None 0.64537 0.64540 0.41973 None None None None None None ADAM11|0.131633893|45.66%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs2070605
dbSNP Clinvar
42855554 2367.9 T C PASS 0|1 78 SYNONYMOUS_CODING LOW None 0.64537 0.64540 0.41996 None None None None None None ADAM11|0.131633893|45.66%

AIPL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs2292546
dbSNP Clinvar
6330068 6120.92 T C PASS 0/1 167 SYNONYMOUS_CODING LOW None 0.71366 0.71370 0.26134 None None None None None None AIPL1|0.064852727|58.69%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs12449580
dbSNP Clinvar
6337247 2898.16 C G PASS 1|0 143 NON_SYNONYMOUS_CODING MODERATE None 0.17991 0.17990 0.16539 0.00 0.76 None None None None None None AIPL1|0.064852727|58.69%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs8075035
dbSNP Clinvar
6331803 2085.16 T C PASS 1|0 90 SYNONYMOUS_CODING LOW None 0.57588 0.57590 0.39474 None None None None None None AIPL1|0.064852727|58.69%

ALDH3A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs2072330
dbSNP Clinvar
19644472 4126.16 A T PASS 1|1 86 SYNONYMOUS_CODING LOW None 0.29074 0.29070 0.30186 None None None None None None ALDH3A1|0.032163878|68.52%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs887241
dbSNP Clinvar
19645938 7465.13 A C PASS 1|1 96 NON_SYNONYMOUS_CODING MODERATE None 0.74461 0.74460 0.34669 0.88 0.00 None None None None None None ALDH3A1|0.032163878|68.52%

ALDH3A2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs7216
dbSNP Clinvar
19578873 7900.9 A T PASS 1|1 109 SPLICE_SITE_REGION LOW None 0.67851 0.67850 0.44933 None None None None None None ALDH3A2|0.089181599|53.41%

ALOX12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs434473
dbSNP Clinvar
6904934 844.16 A G PASS 1|0 21 NON_SYNONYMOUS_CODING MODERATE None 0.34125 0.34130 0.34507 0.81 0.00 None None None None None None ALOX12|0.072773622|56.83%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs1042357
dbSNP Clinvar
6905061 6696.16 T G PASS 0|1 132 SYNONYMOUS_CODING LOW None 0.57228 0.57230 0.42734 None None None None None None ALOX12|0.072773622|56.83%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs1042356
dbSNP Clinvar
6902743 4389.16 G A PASS 0|1 82 SYNONYMOUS_CODING LOW None 0.60184 0.60180 0.39466 None None None None None None ALOX12|0.072773622|56.83%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs1126667
dbSNP Clinvar
6902760 3212.16 A G PASS 0|1 59 NON_SYNONYMOUS_CODING MODERATE None 0.60403 0.60400 0.39190 0.40 0.00 None None None None None None ALOX12|0.072773622|56.83%

ALOX15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs743646
dbSNP Clinvar
4536241 4565.16 T C PASS 1|1 98 SYNONYMOUS_CODING LOW None 0.04633 0.04633 0.08811 None None None None None None ALOX15|0.017879585|75.36%

ALOX15B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs76589243
dbSNP Clinvar
7942901 723.9 C G PASS 0|1 19 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.26358 0.26360 0.22180 None None None None None None ALOX15B|0.008183706|82.49%

ALOXE3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs3809881
dbSNP Clinvar
7999957 2812.16 G A PASS 1|0 63 SYNONYMOUS_CODING LOW None 0.42472 0.42470 0.36845 None None None None None None ALOXE3|0.073088496|56.77%

AMZ2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs3213690
dbSNP Clinvar
66246416 5216.9 A G PASS 0|1 130 NON_SYNONYMOUS_CODING MODERATE None 0.79792 0.79790 0.24127 1.00 0.00 None None None None None None AMZ2|0.012004494|79.24%

ANKFN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs8069322
dbSNP Clinvar
54450134 5381.9 G A PASS 1|1 69 SYNONYMOUS_CODING LOW None 0.67232 0.67230 0.39474 None None None None None None ANKFN1|0.698610051|8.53%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs957724
dbSNP Clinvar
54450038 2050.13 C A PASS 1|1 28 SYNONYMOUS_CODING LOW None 0.61562 0.61560 0.46432 None None None None None None ANKFN1|0.698610051|8.53%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs10852985
dbSNP Clinvar
54534634 2128.16 G A PASS 1|0 59 NON_SYNONYMOUS_CODING MODERATE None 0.75160 0.75160 0.30403 0.16 0.46 None None None None None None ANKFN1|0.698610051|8.53%

ANKFY1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs139994258
dbSNP Clinvar
4082191 3269.16 G A PASS 0|1 148 SYNONYMOUS_CODING LOW None 0.00008 None None None None None None CYB5D2|0.023633765|72.36%,ANKFY1|0.171100968|40.16%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs2020118
dbSNP Clinvar
4088291 7630.9 C T PASS 1|1 79 SYNONYMOUS_CODING LOW None 0.77436 0.77440 0.20761 None None None None None None CYB5D2|0.023633765|72.36%,ANKFY1|0.171100968|40.16%

AOC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs33986943
dbSNP Clinvar
41004637 2630.92 G A PASS 0/1 77 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04832 0.04832 0.07450 0.38 0.00 None None None None None None AOC3|0.087399951|53.73%

AP2B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs1049379
dbSNP Clinvar
33998802 2970.9 G C PASS 0|1 75 SYNONYMOUS_CODING LOW None 0.47105 0.47100 0.49354 None None None None None None AP2B1|0.759088782|6.87%

ARHGAP23

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs9891156
dbSNP Clinvar
36646386 5390.16 A G PASS 0|1 103 SYNONYMOUS_CODING LOW None 0.99082 0.99080 0.02015 None None None None None None ARHGAP23|0.124657713|46.71%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs62074752
dbSNP Clinvar
36666551 269.69 T C PASS 0|1 5 SYNONYMOUS_CODING LOW None 0.83746 0.83750 None None None None None None ARHGAP23|0.124657713|46.71%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs7405920
dbSNP Clinvar
36635721 4302.9 C T PASS 1|1 41 SYNONYMOUS_CODING LOW None 0.95687 0.95690 0.05105 None None None None None None ARHGAP23|0.124657713|46.71%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs8075324
dbSNP Clinvar
36622482 94.33 G C HARD_TO_VALIDATE;LowQual 0|1 43 SYNONYMOUS_CODING LOW None 0.29872 0.29870 None None None None None None ARHGAP23|0.124657713|46.71%

ARHGEF15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs871841
dbSNP Clinvar
8216468 2377.9 T C PASS 1|0 75 NON_SYNONYMOUS_CODING MODERATE None 0.62101 0.62100 0.43657 1.00 0.00 None None None None None None ARHGEF15|0.03636471|66.99%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs3744647
dbSNP Clinvar
8224276 4534.9 T C PASS 1|1 60 NON_SYNONYMOUS_CODING MODERATE None 0.57788 0.57790 0.35699 1.00 0.00 None None None None None None ARHGEF15|0.03636471|66.99%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs3744651
dbSNP Clinvar
8215534 401.25 C T PASS 1|0 13 SYNONYMOUS_CODING LOW None 0.41693 0.41690 0.34769 None None None None None None ARHGEF15|0.03636471|66.99%

ARL16

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs8066889
dbSNP Clinvar
79650828 927.16 T G PASS 0|1 70 NON_SYNONYMOUS_CODING MODERATE None 0.24820 0.24820 0.25755 0.86 0.00 None None None None None None ARL16|0.016560064|76.15%,HGS|0.175136436|39.63%

ARL5C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs16522
dbSNP Clinvar
37316988 1370.16 T C PASS 1|0 58 NON_SYNONYMOUS_CODING MODERATE None 0.13938 0.13940 0.12308 1.00 0.00 None None None None None None ARL5C|0.012423573|78.94%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs544198
dbSNP Clinvar
37319029 4597.9 T G PASS 1|0 139 NON_SYNONYMOUS_CODING MODERATE None 0.23522 0.23520 0.22887 0.01 0.14 None None None None None None ARL5C|0.012423573|78.94%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs657672
dbSNP Clinvar
37319065 1915.16 C T PASS 1|0 119 NON_SYNONYMOUS_CODING MODERATE None 0.13219 0.13220 0.11301 0.04 0.07 None None None None None None ARL5C|0.012423573|78.94%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs657723
dbSNP Clinvar
37319103 1927.9 T C PASS 1|0 46 NON_SYNONYMOUS_CODING MODERATE None 0.33307 0.33310 0.32063 0.02 0.02 None None None None None None ARL5C|0.012423573|78.94%

ARRB2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs1045280
dbSNP Clinvar
4622638 8254.13 C T PASS 1|1 124 SYNONYMOUS_CODING LOW None 0.66953 0.66950 0.40051 None None None None None None ARRB2|0.726219786|7.8%

ARSG

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs1558876
dbSNP Clinvar
66364691 2222.92 C G PASS 0/1 67 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.27596 0.27600 0.36545 0.70 0.00 None None None None None None ARSG|0.038924858|66.13%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs1558878
dbSNP Clinvar
66364804 1475.92 T C PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.35943 0.35940 0.44595 1.00 0.00 None None None None None None ARSG|0.038924858|66.13%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs1558877
dbSNP Clinvar
66364749 7140.13 T C PASS 1|1 127 SYNONYMOUS_CODING LOW None 0.51138 0.51140 0.43964 None None None None None None ARSG|0.038924858|66.13%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs9972951
dbSNP Clinvar
66391276 2155.16 G A PASS 0|1 103 NON_SYNONYMOUS_CODING MODERATE None 0.11182 0.11180 0.03545 0.50 0.01 None None None None None None ARSG|0.038924858|66.13%

ASB16

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs7217858
dbSNP Clinvar
42254527 5523.13 T G PASS 1|1 80 NON_SYNONYMOUS_CODING MODERATE None 0.51917 0.51920 0.36072 0.51 0.00 None None None None None None ASB16|0.091388506|52.96%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs7212573
dbSNP Clinvar
42254281 2873.13 A G PASS 1|1 36 NON_SYNONYMOUS_CODING MODERATE None 0.51797 0.51800 0.39450 1.00 0.00 None None None None None None ASB16|0.091388506|52.96%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs7218599
dbSNP Clinvar
42248346 10952.9 A T PASS 1|1 129 NON_SYNONYMOUS_CODING MODERATE None 0.92652 0.92650 0.10149 0.07 0.00 None None None None None None ASB16|0.091388506|52.96%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs7212854
dbSNP Clinvar
42254417 1996.13 A G PASS 1|1 24 NON_SYNONYMOUS_CODING MODERATE None 0.45427 0.45430 0.15988 0.01 0.22 None None None None None None ASB16|0.091388506|52.96%

ASGR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 . 7077145 592.16 T C PASS 0|1 17 NON_SYNONYMOUS_CODING MODERATE None 0.33 0.01 None None None None None None ASGR1|0.022748466|72.82%

ASIC2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs9893935
dbSNP Clinvar
31618732 975.16 A G PASS 1|0 43 SYNONYMOUS_CODING LOW None 0.55990 0.55990 0.48428 None None None None None None ASIC2|0.867321872|4.31%

ASPA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs12948217
dbSNP Clinvar
3397702 5581.16 C T PASS 0|1 113 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.20367 0.20370 0.28925 3.49 0.00 0.03575 T None None None None SPATA22|0.048389783|63.17%,ASPA|0.191557197|37.65%

ASPSCR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs13087
dbSNP Clinvar
79974731 7216.13 T C PASS 1|1 103 SYNONYMOUS_CODING LOW None 0.58027 0.58030 0.35362 None None None None None None ASPSCR1|0.049924579|62.68%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs8074498
dbSNP Clinvar
79954544 710.16 T A PASS 0|1 32 NON_SYNONYMOUS_CODING MODERATE None 0.38279 0.38280 0.49692 0.00 0.00 None None None None None None ASPSCR1|0.049924579|62.68%

ATP1B2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs1642763
dbSNP Clinvar
7557419 5990.16 A G PASS 1|0 122 SYNONYMOUS_CODING LOW None 0.78994 0.78990 0.19945 None None None None None None ATP1B2|0.217295492|34.69%