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Genes:
AATK, ABCA10, ABCA5, ABCA6, ABCA8, ABCA9, ABCC3, ABHD15, ABI3, ABR, AC005544.1, AC006435.1, AC040977.1, AC061992.1, ACACA, ACAP1, ACE, ACLY, ACSF2, ACTG1, ADAM11, ADORA2B, ADPRM, AIPL1, AKAP1, AKAP10, ALDH3A1, ALDH3A2, ALOX12, ALOX12B, ALOX15B, ALOXE3, AMZ2, ANKFN1, ANKFY1, AP2B1, ARHGAP23, ARHGEF15, ARL5C, ARRB2, ARSG, ASB16, ASGR2, ASPSCR1, ATAD5, ATP1B2, ATP2A3, AURKB, AXIN2, AZI1, B3GNTL1, B4GALNT2, B9D1, BAIAP2, BCAS3, BCL6B, BIRC5, BLMH, BRIP1, BZRAP1, C17orf102, C17orf104, C17orf107, C17orf47, C17orf49, C17orf50, C17orf53, C17orf58, C17orf59, C17orf62, C17orf64, C17orf66, C17orf70, C17orf72, C17orf74, C17orf77, C17orf80, C17orf82, C17orf96, C17orf97, C17orf99, C1QTNF1, CA10, CACNA1G, CACNB1, CACNG5, CAMKK1, CAMTA2, CANT1, CARD14, CASKIN2, CBX2, CBX8, CCDC137, CCDC144A, CCDC144NL, CCDC40, CCDC57, CCL15, CCL16, CCL23, CCL3L3, CCL4, CCL4L2, CCT6B, CD300A, CD300C, CD300E, CD300LB, CD300LD, CD300LF, CD68, CD79B, CDC27, CDK5RAP3, CDR2L, CDRT1, CDRT15, CEP112, CHAD, CHRNE, CLEC10A, CLUH, CNTNAP1, CNTROB, COASY, COG1, COIL, COL1A1, COPRS, COPS3, COX10, CRK, CSF3, CSHL1, CTB-96E2.2, CTC1, CTNS, CUEDC1, CXCL16, CYB561, CYB5D1, CYGB, DCAKD, DDX5, DDX52, DGKE, DHRS11, DHRS13, DHX33, DNAH17, DNAH17-AS1, DNAH2, DNAH9, DNAI2, DOC2B, DPH1, DRG2, DUS1L, EFCAB5, EIF4A3, EIF5A, EME1, ENDOV, ENGASE, ENO3, ENPP7, ENTHD2, EPN2, EPN3, EPX, ERAL1, ERBB2, ERN1, EVI2A, EVPL, EVPLL, FAM104A, FAM187A, FAM20A, FAM211A, FAM83G, FASN, FBF1, FBXO39, FBXO47, FBXW10, FDXR, FMNL1, FN3K, FN3KRP, FNDC8, FOXK2, FOXN1, FZD2, GAA, GAS2L2, GAS7, GAST, GEMIN4, GFAP, GGT6, GID4, GIP, GIT1, GLP2R, GLTPD2, GNGT2, GOSR2, GP1BA, GPATCH8, GPR142, GPR179, GPRC5C, GRB7, GRIN2C, GSDMA, GSG2, GUCY2D, H3F3B, HAP1, HELZ, HES7, HEXDC, HID1, HIGD1B, HOXB1, HOXB5, HOXB7, HS3ST3A1, HS3ST3B1, HSF5, ICT1, IFI35, INTS2, ITGA2B, ITGAE, ITGB3, ITGB4, JUP, KANSL1, KAT7, KCNH6, KCNJ12, KDM6B, KIAA0195, KIAA0753, KIF19, KIF1C, KIF2B, KLHL10, KLHL11, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT19, KRT23, KRT24, KRT25, KRT26, KRT27, KRT28, KRT31, KRT32, KRT34, KRT35, KRT36, KRT37, KRT38, KRT39, KRT40, KRT9, KRTAP1-1, KRTAP1-4, KRTAP16-1, KRTAP29-1, KRTAP3-1, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-16P, KRTAP4-2, KRTAP4-3, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP4-9, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-6, KRTAP9-7, KRTAP9-8, KSR1, LASP1, LEPREL4, LGALS3BP, LGALS9, LGALS9B, LGALS9C, LIG3, LLGL1, LLGL2, LPO, LRRC37A, LRRC37A2, LRRC45, LSMD1, LYZL6, MAP2K3, MAP2K6, MARCH10, MED13, METRNL, METTL2A, MGAT5B, MIEF2, MINK1, MLLT6, MLX, MNT, MPP2, MPRIP, MRC2, MRPL10, MRPL38, MRPL45, MRPS7, MXRA7, MYADML2, MYBBP1A, MYCBPAP, MYH1, MYH10, MYH13, MYH3, MYH8, MYO15A, MYO15B, MYO18A, MYO1C, NAGLU, NBR1, NCOR1, NDEL1, NF1, NLE1, NLGN2, NLRP1, NMT1, NOL11, NOS2, NOTUM, NPTX1, NSF, NSRP1, NT5C, NT5C3B, NTN1, NUP85, NUP88, NXN, ODF4, OGFOD3, OR1A1, OR1A2, OR1D5, OR1E1, OR1E2, OR3A1, OR3A3, OR4D2, OSBPL7, OTOP2, OTOP3, PCGF2, PCTP, PELP1, PEMT, PER1, PFAS, PFN1, PGAP3, PIK3R5, PITPNM3, PLCD3, PLD2, PLEKHH3, PLXDC1, PMP22, PNPO, POLDIP2, POLR2A, PPY, PRKCA, PRPSAP2, PRR15L, PSMB6, PTGES3L-AARSD1, PYCR1, PYY, RAB11FIP4, RABEP1, RAC3, RAI1, RAP1GAP2, RBFOX3, RDM1, RECQL5, RFNG, RHBDF2, RNF213, RNF222, RNF43, RNFT1, RNMTL1, RP11-1055B8.7, RP11-1407O15.2, RP11-477N12.3, RP11-51L5.7, RPA1, RPL19, RPTOR, RSAD1, RTN4RL1, RUNDC1, RUNDC3A, SARM1, SCARF1, SCIMP, SCN4A, SCRN2, SDK2, SEC14L1, SECTM1, SEPT9, SERPINF1, SEZ6, SGSH, SGSM2, SHMT1, SHPK, SIRT7, SKAP1, SLC13A2, SLC16A13, SLC16A3, SLC16A5, SLC16A6, SLC25A10, SLC25A19, SLC25A39, SLC26A11, SLC2A4, SLC35G6, SLC38A10, SLC39A11, SLC43A2, SLC47A2, SLC52A1, SLC5A10, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, SMCR8, SMG6, SMG8, SMTNL2, SMURF2, SMYD4, SNF8, SP2, SPAG5, SPATA20, SPATA22, SPHK1, SPNS2, SPNS3, SPPL2C, SRCIN1, SREBF1, SRP68, SRSF1, SRSF2, SSH2, STARD3, STX8, STXBP4, SUZ12, SYNGR2, TADA2A, TANC2, TAOK1, TAX1BP3, TBC1D28, TBC1D3B, TBC1D3F, TBC1D3H, TBCD, TBX2, TBX21, TBX4, TCAP, TEKT1, TEKT3, TEX14, TK1, TLCD2, TLK2, TMC6, TMC8, TMEM104, TMEM256-PLSCR3, TMEM92, TMEM99, TMUB2, TNFRSF13B, TNFSF12, TNK1, TNRC6C, TOB1, TOP3A, TP53, TRIM16, TRIM16L, TRIM25, TRIM65, TRPV1, TRPV2, TRPV3, TSEN54, TSPAN10, TSR1, TTLL6, TUBD1, TUBG1, TUBG2, TUSC5, TVP23B, TVP23C, UBALD2, UBBP4, UBE2O, UBE2Z, UBTF, ULK2, UNC13D, UNK, USP22, USP36, USP43, USP6, UTP18, UTP6, UTS2R, VMO1, VPS53, VTN, WDR16, WDR81, WFIKKN2, WIPI1, WRAP53, WSB1, WSCD1, XAF1, XYLT2, YBX2, ZBTB4, ZMYND15, ZNF286A, ZNF286B, ZNF287, ZNF624, ZNF750, ZNF830, ZZEF1,

Genes at Omim

ABCA5, ACACA, ACE, ACTG1, AIPL1, AKAP10, ALDH3A2, ALOX12B, ALOXE3, ARSG, ASPSCR1, AXIN2, B9D1, BRIP1, CACNA1G, CANT1, CARD14, CBX2, CCDC40, CD79B, CHRNE, CNTNAP1, COASY, COG1, COL1A1, COX10, CTC1, CTNS, CYB561, DGKE, DNAH9, DNAI2, DPH1, ENO3, EPX, ERAL1, ERBB2, FAM20A, FDXR, FOXN1, FZD2, GAA, GEMIN4, GFAP, GOSR2, GP1BA, GPR179, GUCY2D, HES7, HOXB1, ITGA2B, ITGB3, ITGB4, JUP, KANSL1, KIAA0753, KIF1C, KLHL10, KRT10, KRT12, KRT13, KRT14, KRT16, KRT25, KRT9, MRPS7, MYH3, MYH8, MYO15A, NAGLU, NF1, NLRP1, NTN1, NUP85, PFN1, PGAP3, PIK3R5, PITPNM3, PMP22, PNPO, PRKCA, PYCR1, RAI1, RHBDF2, RNF213, RNF43, SCN4A, SEPT9, SERPINF1, SGSH, SHPK, SLC25A19, SLC52A1, SLFN14, TBCD, TBX2, TBX21, TBX4, TCAP, TEX14, TLK2, TMC6, TMC8, TNFRSF13B, TOP3A, TP53, TRPV3, TSEN54, TUBG1, UBTF, UNC13D, 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)
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)
AKAP10 {Cardiac conduction defect, susceptibility to}, 115080 (3)
ALDH3A2 Sjogren-Larsson syndrome, 270200 (3)
ALOX12B Ichthyosis, congenital, autosomal recessive 2, 242100 (3)
ALOXE3 Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
ARSG Usher syndrome, type IV, 618144 (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)
BRIP1 Fanconi anemia, complementation group J, 609054 (3)
{Breast cancer, early-onset, susceptibility to}, 114480 (3)
CACNA1G Spinocerebellar ataxia 42, 616795 (3)
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 (3)
CANT1 Desbuquois dysplasia 1, 251450 (3)
Epiphyseal dysplasia, multiple, 7, 617719 (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)
CHRNE Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)
Myasthenic syndrome, congenital, 4B, fast-channel, 616324 (3)
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 (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)
COG1 Congenital disorder of glycosylation, type IIg, 611209 (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)
CYB561 Orthostatic hypotension 2, 618182 (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)
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)
FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)
FZD2 Omodysplasia 2, 164745 (3)
GAA Glycogen storage disease II, 232300 (3)
GEMIN4 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3)
GFAP Alexander disease, 203450 (3)
GOSR2 Epilepsy, progressive myoclonic 6, 614018 (3)
GP1BA Bernard-Soulier syndrome, type A1 (recessive), 231200 (3)
Bernard-Soulier syndrome, type A2 (dominant), 153670 (3)
{Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3)
von Willebrand disease, platelet-type, 177820 (3)
GPR179 Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)
GUCY2D Cone-rod dystrophy 6, 601777 (3)
Leber congenital amaurosis 1, 204000 (3)
?Choroidal dystrophy, central areolar 1, 215500 (3)
HES7 Spondylocostal dysostosis 4, autosomal recessive, 613686 (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)
ITGB3 Glanzmann thrombasthenia, 273800 (3)
Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
Purpura, posttransfusion (3)
Thrombocytopenia, neonatal alloimmune (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)
KANSL1 Koolen-De Vries syndrome, 610443 (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)
KRT16 Pachyonychia congenita 1, 167200 (3)
Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)
KRT25 Woolly hair, autosomal recessive 3, 616760 (3)
KRT9 Palmoplantar keratoderma, epidermolytic, 144200 (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)
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)
NTN1 Mirror movements 4, 618264 (3)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
PFN1 Amyotrophic lateral sclerosis 18, 614808 (3)
PGAP3 Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)
PIK3R5 Ataxia-oculomotor apraxia 3, 615217 (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)
PRKCA Pituitary tumor, invasive (3)
PYCR1 Cutis laxa, autosomal recessive, type IIB, 612940 (3)
Cutis laxa, autosomal recessive, type IIIB, 614438 (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)
SLC25A19 Microcephaly, Amish type, 607196 (3)
Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)
SLC52A1 Riboflavin deficiency, 615026 (3)
SLFN14 Bleeding disorder, platelet-type, 20, 616913 (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)
TBX21 Asthma and nasal polyps, 208550 (3)
{Asthma, aspirin-induced, susceptibility to}, 208550 (3)
TBX4 Ischiocoxopodopatellar syndrome, 147891 (3)
TCAP Cardiomyopathy, hypertrophic, 25, 607487 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3)
TEX14 ?Spermatogenic failure 23, 617707 (3)
TLK2 Mental retardation, autosomal dominant 57, 618050 (3)
TMC6 Epidermodysplasia verruciformis, 226400 (3)
TMC8 Epidermodysplasia verruciformis 2, 618231 (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)
UNC13D Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (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, ACTG1, AIPL1, ALDH3A2, ALOX12B, ALOXE3, AXIN2, B9D1, BRIP1, CACNA1G, CANT1, CARD14, CBX2, CCDC137, CCDC40, CD79B, CHRNE, CNTNAP1, COASY, COG1, COL1A1, COX10, CTC1, CTNS, DGKE, DNAI2, DPH1, EIF4A3, ENO3, EPX, FAM20A, FOXN1, GAA, GFAP, GOSR2, GP1BA, GPR179, GUCY2D, HES7, HOXB1, ITGA2B, ITGB3, ITGB4, JUP, KANSL1, KIF1C, KLHL10, KRT10, KRT12, KRT13, KRT14, KRT16, KRT25, KRT9, MYH3, MYH8, MYO15A, NAGLU, NF1, NLRP1, PFN1, PGAP3, PIK3R5, PITPNM3, PMP22, PNPO, PYCR1, RAI1, RHBDF2, RNF213, SCN4A, SEPT9, SERPINF1, SGSH, SLC25A19, SLC52A1, SLFN14, TBX4, TCAP, TMC6, TMC8, TNFRSF13B, TP53, TRPV3, TSEN54, TUBG1, UNC13D, VPS53, WDR81, WRAP53, ZMYND15, ZNF750,
ABCA5 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia
ACE Renal tubular dysgenesis
ACE serum levels
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
ALOX12B Ichthyosiform erythroderma, congenital, nonbullous, 1
ALOXE3 Ichthyosiform erythroderma, congenital, nonbullous, 1
AXIN2 Oligodontia-colorectal cancer syndrome
B9D1 Meckel syndrome 9
BRIP1 Breast cancer
Fanconi anemia, complementation group J
CACNA1G Spinocerebellar ataxia 42
CANT1 Desbuquois dysplasia 1
CARD14 Psoriasis 2
CBX2 46,XY sex reversal 5
CCDC137 Schizophrenia
CCDC40 Ciliary dyskinesia, primary, 15
CD79B Agammaglobulinemia 6
CHRNE Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Myasthenic syndrome, fast-channel congenital
Myasthenic syndrome, slow-channel congenital
CNTNAP1 Lethal congenital contracture syndrome 7
COASY Neurodegeneration with brain iron accumulation 6
COG1 Congenital disorder of glycosylation, type IIg
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
EIF4A3 Richieri-Costa-Pereira Syndrome
ENO3 Glycogen storage disease XIII
EPX Eosinophil peroxidase deficiency
FAM20A Amelogenesis imperfecta, type IG (Enamel-renal syndrome)
FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy
GAA Glycogen storage disease II
GFAP Alexander disease
GOSR2 Epilepsy, progessive myoclonic 6
GP1BA Bernard-Soulier syndrome, type A2
Bernard-Soulier syndrome, type A1
Pseudo-von Willebrand disease
GPR179 Night blindness, congenital stationary, type 1E
GUCY2D Cone-rod dystrophy 6
Leber congenital amaurosis, type 1
Cone-Rod dystrophy, autosomal recessive
HES7 Spondylocostal dysostosis 4, autosomal recessive
HOXB1 Facial paresis, hereditary congenital, 3
ITGA2B Glanzmann thrombasthenia
ITGB3 Bleeding disorder, platelet-type, 16, autosomal dominant
Glanzmann thrombasthenia
Thrombocytopenia, neonatal alloimmune
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
KANSL1 Koolen-de Vries syndrom
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
KRT16 Palmoplantar keratoderma, nonepidermolytic, focal
Pachyonychia congenita 1
KRT25 Woolly hair, autosomal recessive 3
KRT9 Palmoplantar keratoderma, epidermolytic
Knuckle pads
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)
NF1 Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
Watson syndrome
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
PFN1 Amyotrophic lateral sclerosis 18
PGAP3 Hyperphosphatasia with mental retardation syndrome 4
PIK3R5 Ataxia-oculomotor apraxia 3
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
PYCR1 Cutis laxa, autosomal recessive, type IIB
Cutis laxa, autosomal recessive type IIIB
RAI1 Smith-Magenis syndrome
RHBDF2 Tylosis with esophageal cancer
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
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo syndrome A)
SLC25A19 Thiamine metabolism dysfunction syndrome 4
Microcephaly, Amish type
SLC52A1 Maternal riboflavin deficiency
SLFN14 Bleeding disorder, platelet-type, 20
TBX4 Small patella syndrome
TCAP Cardiomyopathy, dilated, 1N
Cardiomyopathy, familial hypertrophic 25
Muscular dystrophy, limb-girdle, type 2G
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
UNC13D Hemophagocytic lymphohistiocytosis, familial 3
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: 3813
Number of Genes: 585

Export to: CSV

AATK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 17 rs36000545
dbSNP Clinvar
79093822 1588.0 A G PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.35982 0.35980 0.27890 0.43 0.00 None None None None None None AATK|0.00450864|86.39%
View fpd-aix-mes-312-12 17 rs8073904
dbSNP Clinvar
79095144 7244.0 G A PASS 1/1 24 SYNONYMOUS_CODING LOW None 0.80531 0.80530 0.14925 None None None None None None AATK|0.00450864|86.39%
View fpd-aix-mes-312-12 17 rs7503604
dbSNP Clinvar
79095629 1231.0 C A PASS 1/1 4 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%

ABCA10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 17 rs10491178
dbSNP Clinvar
67149973 2413.0 G A PASS 0/1 54 STOP_GAINED+SPLICE_SITE_REGION HIGH None 0.08866 0.08866 0.06005 None None None None None None ABCA10|0.002179826|90.49%
View fpd-aix-mes-312-12 17 rs16973656
dbSNP Clinvar
67150118 1884.0 C T PASS 0/1 86 SYNONYMOUS_CODING LOW None 0.08786 0.08786 0.06005 None None None None None None ABCA10|0.002179826|90.49%
View fpd-aix-mes-312-12 17 rs4968849
dbSNP Clinvar
67178316 36781.0 A G PASS 1/1 237 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 fpd-aix-mes-312-12 17 rs11657804
dbSNP Clinvar
67210992 5149.0 T C PASS 0/1 100 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.26158 0.26160 0.29885 0.30 0.12 None None None None None None ABCA10|0.002179826|90.49%
View fpd-aix-mes-312-12 17 rs11077414
dbSNP Clinvar
67212031 20169.0 A G,T PASS 0/1 168 STOP_GAINED HIGH None 0.06470 0.47140 0.42465 None None None None None None ABCA10|0.002179826|90.49%
View fpd-aix-mes-312-12 17 rs12941264
dbSNP Clinvar
67215712 17022.0 C T PASS 0/1 140 SYNONYMOUS_CODING LOW None 0.59844 0.59840 0.32759 None None None None None None ABCA10|0.002179826|90.49%
View fpd-aix-mes-312-12 17 rs9909216
dbSNP Clinvar
67212423 14572.0 G A PASS 0/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.58067 0.58070 0.34515 0.03 0.00 None None None None None None ABCA10|0.002179826|90.49%

ABCA5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 17 rs536009
dbSNP Clinvar
67273882 14639.0 C A PASS 0/1 94 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 fpd-aix-mes-312-12 17 rs557491
dbSNP Clinvar
67267317 12396.0 T C PASS 1/1 91 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%
View fpd-aix-mes-312-12 17 rs11544715
dbSNP Clinvar
67304447 5602.0 C T PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.12400 0.12400 0.15132 0.13 0.01 None None None None None None ABCA5|0.269145961|29.93%
View fpd-aix-mes-312-12 17 rs17686569
dbSNP Clinvar
67290840 6344.0 T C PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.14377 0.14380 0.17474 0.24 0.02 None None None None None None ABCA5|0.269145961|29.93%

ABCA6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 17 rs2302134
dbSNP Clinvar
67081830 10102.0 T C PASS 0/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.45986 0.45990 0.48539 0.16 0.45 None None None None None None ABCA6|0.006278632|84.32%
View fpd-aix-mes-312-12 17 rs7212506
dbSNP Clinvar
67101718 48041.0 C T PASS 0/1 337 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 fpd-aix-mes-312-12 17 rs9282553
dbSNP Clinvar
67108362 6384.0 C G PASS 0/1 157 NON_SYNONYMOUS_CODING MODERATE None 0.20767 0.20770 0.17292 0.02 0.00 None None None None None None ABCA6|0.006278632|84.32%
View fpd-aix-mes-312-12 17 rs9282554
dbSNP Clinvar
67109833 6039.0 T A PASS 0/1 199 NON_SYNONYMOUS_CODING MODERATE None 0.09345 0.09345 0.05774 0.16 0.39 None None None None None None ABCA6|0.006278632|84.32%
View fpd-aix-mes-312-12 17 rs4968839
dbSNP Clinvar
67125840 17366.0 C T PASS 1/1 96 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%

ABCA8

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 17 rs35621847
dbSNP Clinvar
66924083 2410.0 G A PASS 0/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.03954 0.03954 0.04890 0.08 0.08 None None None None None None ABCA8|0.008754907|81.9%
View fpd-aix-mes-312-12 17 rs8068987
dbSNP Clinvar
66873743 2413.0 G A PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.15455 0.15460 0.14647 None None None None None None ABCA8|0.008754907|81.9%
View fpd-aix-mes-312-12 17 rs34001235
dbSNP Clinvar
66887675 1802.0 C T PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.01438 0.01438 0.01284 None None None None None None ABCA8|0.008754907|81.9%
View fpd-aix-mes-312-12 17 rs1481
dbSNP Clinvar
66872802 13325.0 G C PASS 1/1 70 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
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 17 rs2302291
dbSNP Clinvar
67028260 23144.0 T C PASS 1/1 135 SYNONYMOUS_CODING LOW None 0.40695 0.40690 0.47932 None None None None None None ABCA9|0.017284198|75.69%
View fpd-aix-mes-312-12 17 rs1860447
dbSNP Clinvar
67031457 38124.0 C T PASS 1/1 173 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 fpd-aix-mes-312-12 17 rs2302294
dbSNP Clinvar
66985992 13663.0 T G PASS 1/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.41334 0.41330 0.48347 0.02 0.99 None None None None None None ABCA9|0.017284198|75.69%

ABCC3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 17 rs4148416
dbSNP Clinvar
48753423 213.0 C T PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.13698 0.13700 0.10095 None None None None None None ABCC3|0.044769991|64.26%
View fpd-aix-mes-312-12 17 rs2277624
dbSNP Clinvar
48761105 1451.0 C T PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.28694 0.28690 0.26465 None None None None None None ABCC3|0.044769991|64.26%
View fpd-aix-mes-312-12 17 rs11568591
dbSNP Clinvar
48761053 1210.0 G A PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.01977 0.01977 0.04744 0.00 1.00 None None None None None None ABCC3|0.044769991|64.26%
View fpd-aix-mes-312-12 17 rs967935
dbSNP Clinvar
48755388 1117.0 C T PASS 0/1 49 None None None 0.12161 0.12160 0.09 None None None None None None ABCC3|0.044769991|64.26%

ABHD15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 17 rs721479
dbSNP Clinvar
27889963 1807.0 C G PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.22284 0.22280 0.22328 None None None None None None ABHD15|0.102676834|50.66%
View fpd-aix-mes-312-12 17 rs542939
dbSNP Clinvar
27889986 13546.0 T C PASS 1/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.76797 0.76800 0.30571 1.00 0.03 None None None None None None ABHD15|0.102676834|50.66%

ABI3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 17 rs616338
dbSNP Clinvar
47297297 2944.0 T C PASS 1/1 16 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 17 rs2262150
dbSNP Clinvar
970413 15471.0 C T PASS 1/1 56 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 17 rs185149010
dbSNP Clinvar
65027942 259.0 C T PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.69 None None None None None None CACNG4|0.127367032|46.28%
View fpd-aix-mes-312-12 17 rs740555
dbSNP Clinvar
65027740 3604.0 G C PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.34984 0.34980 0.98 None None None None None None CACNG4|0.127367032|46.28%

AC006435.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 17 rs4613098
dbSNP Clinvar
2318550 5145.0 G C PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.46166 0.46170 0.37496 0.00 None None None None None None METTL16|0.27183769|29.76%

AC040977.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 17 rs7338
dbSNP Clinvar
6917703 13915.0 C T PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.76378 0.76380 0.07 0.46 None None None None None None RNASEK|0.057333942|60.59%,RNASEK-C17orf49|0.371919774|22.61%

AC061992.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 17 rs4969188
dbSNP Clinvar
76422473 18727.0 T C PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.76617 0.76620 0.00 None None None None None None DNAH17|0.043900967|64.55%

ACACA

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 17 rs1470452
dbSNP Clinvar
35478362 9711.0 T C PASS 1/1 48 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00108 None None None None None None ACACA|0.94269074|2.39%
View fpd-aix-mes-312-12 17 rs58654829
dbSNP Clinvar
35696804 89898.0 G A PASS 1/1 289 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 17 rs4796407
dbSNP Clinvar
7245371 5706.0 A G PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.31490 0.31490 0.40697 None None None None None None ACAP1|0.086299912|53.89%
View fpd-aix-mes-312-12 17 rs35985803
dbSNP Clinvar
7254315 1074.0 G A PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.04273 0.04273 0.06512 0.35 0.00 None None None None None None ACAP1|0.086299912|53.89%

ACE

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 17 rs4459610
dbSNP Clinvar
61584720 6663.0 A T PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.45268 0.45270 0.00 None None None None None None ACE|0.894558224|3.56%
View fpd-aix-mes-312-12 17 rs4316818
dbSNP Clinvar
61584627 9737.0 T C PASS 1/1 50 SYNONYMOUS_CODING LOW None 0.51717 0.51720 None None None None None None ACE|0.894558224|3.56%

ACLY

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 17 rs8065502
dbSNP Clinvar
40048613 13106.0 A G PASS 1/1 34 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.90435 0.90440 0.12479 None None None None None None ACLY|0.44685425|18.3%
View fpd-aix-mes-312-12 17 rs2304497
dbSNP Clinvar
40065774 871.0 T G PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.09405 0.09405 0.10549 0.66 0.00 None None None None None None ACLY|0.44685425|18.3%

ACSF2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 17 rs2305998
dbSNP Clinvar
48549791 2751.0 C G PASS 0/1 58 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.18570 0.18570 0.24427 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 fpd-aix-mes-312-12 17 rs1139405
dbSNP Clinvar
79478019 16699.0 G A PASS 0/1 116 SYNONYMOUS_CODING LOW None 0.75619 0.75620 0.24543 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 fpd-aix-mes-312-12 17 rs1558084
dbSNP Clinvar
42852610 38587.0 T C PASS 0/1 118 SYNONYMOUS_CODING LOW None 0.90495 0.90500 0.10518 None None None None None None ADAM11|0.131633893|45.66%

ADORA2B

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 fpd-aix-mes-312-12 17 rs770185409
dbSNP Clinvar
15878266 691.0 T G PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.01 None None None None None None ADORA2B|0.218617253|34.53%

ADPRM

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 fpd-aix-mes-312-12 17 rs406446
dbSNP Clinvar
10614442 9834.0 A G PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.48722 0.48720 0.48770 0.09 0.04 None None None None None None ADPRM|0.084888375|54.22%,TMEM220|0.046283396|63.81%

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 fpd-aix-mes-312-12 17 rs2292546
dbSNP Clinvar
6330068 10693.0 T C PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.71366 0.71370 0.26134 None None None None None None AIPL1|0.064852727|58.69%
View fpd-aix-mes-312-12 17 rs12449580
dbSNP Clinvar
6337247 5520.0 C G PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.17991 0.17990 0.16539 0.00 0.58 None None None None None None AIPL1|0.064852727|58.69%
View fpd-aix-mes-312-12 17 rs8075035
dbSNP Clinvar
6331803 6629.0 T C PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.57588 0.57590 0.39474 None None None None None None AIPL1|0.064852727|58.69%

AKAP1

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 fpd-aix-mes-312-12 17 rs17761023
dbSNP Clinvar
55182878 503.0 C T PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.06090 0.06090 0.09096 0.02 0.07 None None None None None None AKAP1|0.039700237|65.85%
View fpd-aix-mes-312-12 17 rs1050515
dbSNP Clinvar
55183716 6592.0 T C PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.59066 0.59070 0.45917 None None None None None None AKAP1|0.039700237|65.85%

AKAP10

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 fpd-aix-mes-312-12 17 rs757988473
dbSNP Clinvar
19861454 1417.0 A C PASS 0/1 132 SYNONYMOUS_CODING LOW None None None None None None None AKAP10|0.479048269|16.82%
View fpd-aix-mes-312-12 17 rs203462
dbSNP Clinvar
19812541 10633.0 T C PASS 0/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.39397 0.39400 0.45041 1.00 0.00 None None None None None None AKAP10|0.479048269|16.82%
View fpd-aix-mes-312-12 17 rs2108978
dbSNP Clinvar
19861458 9235.0 C T PASS 0/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.38958 0.38960 0.44495 0.74 0.00 None None None None None None AKAP10|0.479048269|16.82%

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 fpd-aix-mes-312-12 17 rs887241
dbSNP Clinvar
19645938 7734.0 A C PASS 0/1 39 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%
View fpd-aix-mes-312-12 17 rs2228100
dbSNP Clinvar
19642952 4439.0 G C PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.37999 0.38000 0.32239 0.17 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 fpd-aix-mes-312-12 17 rs7216
dbSNP Clinvar
19578873 17545.0 A T PASS 0/1 144 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 fpd-aix-mes-312-12 17 rs1042356
dbSNP Clinvar
6902743 8806.0 G A PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.60184 0.60180 0.39466 None None None None None None ALOX12|0.072773622|56.83%
View fpd-aix-mes-312-12 17 rs434473
dbSNP Clinvar
6904934 9257.0 A G PASS 0/1 97 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 fpd-aix-mes-312-12 17 rs1042357
dbSNP Clinvar
6905061 6951.0 T G PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.57228 0.57230 0.42734 None None None None None None ALOX12|0.072773622|56.83%
View fpd-aix-mes-312-12 17 rs1126667
dbSNP Clinvar
6902760 8118.0 A G PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.60403 0.60400 0.39190 0.40 0.01 None None None None None None ALOX12|0.072773622|56.83%
View fpd-aix-mes-312-12 17 rs312467
dbSNP Clinvar
6899559 3055.0 C G PASS 1/1 14 SYNONYMOUS_CODING LOW None 0.00140 0.94930 None None None None None None ALOX12|0.072773622|56.83%

ALOX12B

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 fpd-aix-mes-312-12 17 rs141010860
dbSNP Clinvar
7979514 282.0 G A PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.00015 0.01 0.50 None None None None None None ALOX12B|0.051252104|62.25%

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 fpd-aix-mes-312-12 17 rs6503070
dbSNP Clinvar
7948175 5503.0 C T PASS 0/1 49 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59724 0.59720 0.44572 None None None None None None ALOX15B|0.008183706|82.49%
View fpd-aix-mes-312-12 17 rs4792147
dbSNP Clinvar
7951819 10305.0 A G PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.65036 0.65040 0.39520 0.46 0.00 None None None None None None ALOX15B|0.008183706|82.49%
View fpd-aix-mes-312-12 17 rs61730298
dbSNP Clinvar
7951756 1445.0 G A PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.03075 0.03075 0.02845 0.43 0.02 None None None None None None ALOX15B|0.008183706|82.49%
View fpd-aix-mes-312-12 17 rs9898751
dbSNP Clinvar
7950952 2606.0 C A PASS 0/1 34 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.44748 0.44750 0.44649 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 fpd-aix-mes-312-12 17 rs3809881
dbSNP Clinvar
7999957 1986.0 G A PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.42472 0.42470 0.36845 None None None None None None ALOXE3|0.073088496|56.77%
View fpd-aix-mes-312-12 17 rs3027229
dbSNP Clinvar
8021608 2341.0 G C PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.14357 0.14360 0.02 0.02 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 fpd-aix-mes-312-12 17 rs3213690
dbSNP Clinvar
66246416 19500.0 A G PASS 0/1 128 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 fpd-aix-mes-312-12 17 rs8069322
dbSNP Clinvar
54450134 9417.0 G A PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.67232 0.67230 0.39474 None None None None None None ANKFN1|0.698610051|8.53%
View fpd-aix-mes-312-12 17 rs957724
dbSNP Clinvar
54450038 13449.0 C A PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.61562 0.61560 0.46432 None None None None None None ANKFN1|0.698610051|8.53%
View fpd-aix-mes-312-12 17 rs10852985
dbSNP Clinvar
54534634 13522.0 G A PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.75160 0.75160 0.30403 0.16 0.08 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 fpd-aix-mes-312-12 17 rs2020118
dbSNP Clinvar
4088291 11511.0 C T PASS 1/1 68 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%

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 fpd-aix-mes-312-12 17 rs17670584
dbSNP Clinvar
33998904 4114.0 T C PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.04353 0.04353 0.07804 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 fpd-aix-mes-312-12 17 rs62074752
dbSNP Clinvar
36666551 1648.0 T C PASS 1/1 6 SYNONYMOUS_CODING LOW None 0.83746 0.83750 None None None None None None ARHGAP23|0.124657713|46.71%
View fpd-aix-mes-312-12 17 rs377612823
dbSNP Clinvar
36614353 1112.0 T C PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.14 0.77 None None None None None None ARHGAP23|0.124657713|46.71%
View fpd-aix-mes-312-12 17 rs117469511
dbSNP Clinvar
36646726 10194.0 C T VQSRTrancheSNP99.90to100.00 0/1 337 SYNONYMOUS_CODING LOW None None None None None None None ARHGAP23|0.124657713|46.71%
View fpd-aix-mes-312-12 17 rs7405920
dbSNP Clinvar
36635721 32206.0 C T PASS 1/1 132 SYNONYMOUS_CODING LOW None 0.95687 0.95690 0.05105 None None None None None None ARHGAP23|0.124657713|46.71%
View fpd-aix-mes-312-12 17 rs9891156
dbSNP Clinvar
36646386 23920.0 A G PASS 1/1 111 SYNONYMOUS_CODING LOW None 0.99082 0.99080 0.02015 None None None None None None ARHGAP23|0.124657713|46.71%
View fpd-aix-mes-312-12 17 rs8075324
dbSNP Clinvar
36622482 14587.0 G C PASS 0/1 171 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 fpd-aix-mes-312-12 17 rs3744647
dbSNP Clinvar
8224276 8133.0 T C PASS 1/1 56 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 fpd-aix-mes-312-12 17 rs3744651
dbSNP Clinvar
8215534 5032.0 C T VQSRTrancheSNP99.90to100.00 0/1 26 SYNONYMOUS_CODING LOW None 0.41693 0.41690 0.34769 None None None None None None ARHGEF15|0.03636471|66.99%
View fpd-aix-mes-312-12 17 rs871841
dbSNP Clinvar
8216468 8989.0 T C PASS 1/1 36 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%

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 fpd-aix-mes-312-12 17 rs544198
dbSNP Clinvar
37319029 7965.0 T G PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.23522 0.23520 0.22887 0.01 0.21 None None None None None None ARL5C|0.012423573|78.94%
View fpd-aix-mes-312-12 17 rs657723
dbSNP Clinvar
37319103 4077.0 T C PASS 1/1 35 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%
View fpd-aix-mes-312-12 17 rs16521
dbSNP Clinvar
37316818 2458.0 G A PASS 0/1 67 None None None 0.03694 0.03694 0.04555 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 fpd-aix-mes-312-12 17 rs1045280
dbSNP Clinvar
4622638 10142.0 C T PASS 1/1 62 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 fpd-aix-mes-312-12 17 rs1558877
dbSNP Clinvar
66364749 2263.0 T C PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.51138 0.51140 0.43964 None None None None None None ARSG|0.038924858|66.13%
View fpd-aix-mes-312-12 17 rs1558878
dbSNP Clinvar
66364804 3633.0 T C PASS 0/1 58 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 fpd-aix-mes-312-12 17 rs1558876
dbSNP Clinvar
66364691 831.0 C G PASS 0/1 22 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.27596 0.27600 0.36545 0.70 0.02 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 fpd-aix-mes-312-12 17 rs7217858
dbSNP Clinvar
42254527 1282.0 T G PASS 1/1 18 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 fpd-aix-mes-312-12 17 rs7212854
dbSNP Clinvar
42254417 936.0 A G PASS 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.45427 0.45430 0.15988 0.01 0.08 None None None None None None ASB16|0.091388506|52.96%
View fpd-aix-mes-312-12 17 rs7212573
dbSNP Clinvar
42254281 2037.0 A G PASS 0/1 35 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%