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Genes:
AATF, AATK, ABCA5, ABCA6, ABCA8, ABCA9, ABHD15, ABI3, ABR, ACACA, ACAP1, ACE, ACLY, ACOX1, ACSF2, ACTG1, ADAM11, ADPRM, AIPL1, AKAP1, ALDH3A1, ALOX12, ALOX15B, ALOXE3, AMZ2, ANKFN1, ANKFY1, AOC3, AP2B1, ARHGAP23, ARHGAP27, ARHGEF15, ARRB2, ARSG, ASB16, ASIC2, ASPA, ASPSCR1, ATAD5, ATP1B2, ATP2A3, AURKB, AXIN2, AZI1, B3GNTL1, B4GALNT2, B9D1, BAIAP2, BCAS3, BCL6B, BHLHA9, BIRC5, BRCA1, BRIP1, BZRAP1, C17orf102, C17orf47, C17orf49, C17orf53, C17orf58, C17orf59, C17orf70, C17orf72, C17orf74, C17orf77, C17orf78, C17orf80, C17orf82, C17orf96, C17orf97, C17orf99, C1QTNF1, CACNA1G, CALCOCO2, CAMKK1, CAMTA2, CANT1, CARD14, CASKIN2, CBX2, CCDC137, CCDC144A, CCDC144NL, CCDC40, CCDC57, CCL15, CCL2, CCL23, CCL8, CCR7, CCT6B, CD300E, CD300LB, CD300LD, CD300LF, CD300LG, CD79B, CDC6, CDR2L, CDRT1, CDRT15, CDRT4, CEP112, CHAD, CHRNB1, CLDN7, CLUH, CNP, CNTNAP1, CNTROB, COASY, COG1, COIL, COL1A1, COPRS, COX10, COX11, CSF3, CTB-96E2.2, CTC1, CTDNEP1, CTNS, CXCL16, CYB5D1, DCAF7, DCAKD, DDX52, DGKE, DHRS13, DHX33, DLX3, DNAH17, DNAH2, DNAH9, DNAI2, DOC2B, DPH1, DUS1L, DVL2, EFCAB13, EFCAB5, EFTUD2, EIF4A1, EIF5A, ELAC2, ELP5, EME1, ENDOV, ENGASE, ENO3, ENPP7, ENTHD2, EPN2, EPN3, EPX, ERBB2, ERN1, EVI2A, EVPL, EVPLL, EXOC7, FAM104A, FAM20A, FAM211A, FAM83G, FASN, FBF1, FBXO47, FBXW10, FDXR, FMNL1, FN3K, FN3KRP, FNDC8, FOXK2, FTSJ3, GAA, GALR2, GAS2L2, GAST, GFAP, GGA3, GGNBP2, GGT6, GIP, GIT1, GLP2R, GLTPD2, GOSR2, GPATCH8, GPR142, GPS2, GRB7, GRIN2C, GSDMA, HAP1, HDAC5, HELZ, HES7, HEXDC, HEXIM1, HID1, HIGD1B, HNF1B, HOXB1, HOXB13, HOXB5, HOXB7, HS3ST3B1, HSD17B1, HSF5, ICAM2, ICT1, IFI35, IGFBP4, INPP5K, INTS2, ITGA2B, ITGA3, ITGAE, ITGB3, ITGB4, JUP, KANSL1, KAT7, KCNH6, KCNJ12, KDM6B, KIAA0100, KIAA0195, KIAA0753, KIF19, KIF2B, KLHL10, KLHL11, KPNA2, KRT10, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT20, KRT23, KRT24, KRT25, KRT26, KRT27, KRT28, KRT32, KRT33A, KRT33B, KRT34, KRT35, KRT36, KRT37, KRT38, KRT39, KRT40, KRT9, KRTAP1-1, KRTAP3-1, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-8, KSR1, LASP1, LGALS3BP, LGALS9, LLGL1, LLGL2, LPO, LRRC37A, LRRC37A2, LRRC37B, LRRC48, LSMD1, MAP2K3, MAP2K6, MARCH10, MED13, MED24, MFSD6L, MGAT5B, MIEF2, MIF4GD, MINK1, MLLT6, MLX, MMP28, MNT, MPP2, MPP3, MPRIP, MRC2, MRPL38, MRPS23, MSI2, MTMR4, MYADML2, MYBBP1A, MYCBPAP, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYO15A, MYO18A, MYO19, MYO1C, NAGLU, NAGS, NAT9, NBR1, NEK8, NEURL4, NF1, NFE2L1, NLE1, NLGN2, NLRP1, NMT1, NOL11, NOS2, NPLOC4, NPTX1, NSRP1, NT5C, NT5C3B, NUP85, NUP88, ODF4, OGFOD3, OR1A1, OR1A2, OR1D2, OR1D5, OR1E1, OR1E2, OR3A2, OR3A3, OSBPL7, OTOP2, OTOP3, P4HB, PCGF2, PCTP, PDK2, PELP1, PEMT, PER1, PFAS, PGAP3, PGS1, PHF12, PIK3R5, PIK3R6, PIP4K2B, PITPNM3, PLCD3, PLD2, PLXDC1, PNPO, POLDIP2, POLG2, POLR2A, PPP1R9B, PRKCA, PSMB6, PSMC3IP, PSMC5, PSMD3, PTGES3L-AARSD1, PYCR1, PYY, QRICH2, RAB11FIP4, RABEP1, RAI1, RAP1GAP2, RARA, RECQL5, RHBDF2, RHOT1, RNF135, RNF157, RNF213, RNF222, RNF43, RNFT1, RP11-1055B8.7, RPA1, RPRML, RPTOR, RSAD1, RTN4RL1, RUNDC1, SARM1, SAT2, SCARF1, SCN4A, SCRN2, SDK2, SEC14L1, SECTM1, SENP3, SEPT4, SERPINF1, SERPINF2, SEZ6, SGSH, SGSM2, SHPK, SIRT7, SKAP1, SLC13A5, SLC16A13, SLC16A3, SLC16A5, SLC25A10, SLC25A19, SLC2A4, SLC35B1, SLC35G6, SLC38A10, SLC39A11, SLC43A2, SLC46A1, SLC47A2, SLC52A1, SLC5A10, SLC9A3R1, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, SMCR8, SMG6, SMTNL2, SMYD4, SNF8, SOX9, SP2, SPATA20, SPATA22, SPATA32, SPECC1, SPHK1, SPNS2, SPNS3, SPOP, SPPL2C, SREBF1, SRP68, SRSF2, STARD3, STAT5A, STRADA, STX8, STXBP4, SUPT6H, SYNGR2, SYNRG, TADA2A, TANC2, TAOK1, TAX1BP3, TBC1D16, TBC1D26, TBC1D28, TBCD, TBX2, TBX21, TCAP, TEKT1, TEKT3, TEX14, TIMP2, TK1, TLCD1, TLCD2, TLK2, TM4SF5, TMC6, TMEM104, TMEM256-PLSCR3, TMEM92, TMEM99, TNFRSF13B, TNFSF12, TNFSF12-TNFSF13, TNK1, TNRC6C, TNS4, TOB1, TRIM16, TRIM25, TRIM37, TRIM47, TRIM65, TRPV1, TRPV2, TRPV3, TSEN54, TSPAN10, TSR1, TTC19, TTLL6, TUBD1, TUBG2, TUSC5, TVP23C, UBALD2, UBE2O, UBE2Z, UBTF, ULK2, UNC13D, UNC45B, UNK, USP22, USP36, USP43, USP6, UTP18, UTS2R, VAT1, VMO1, VTN, WDR16, WDR81, WFIKKN2, WNK4, WNT9B, WRAP53, WSB1, WSCD1, XAF1, XYLT2, ZACN, ZFP3, ZMYND15, ZNF286A, ZNF287, ZNF594, ZNF750, ZNF830, ZZEF1,

Genes at Omim

ABCA5, ACACA, ACE, ACOX1, ACTG1, AIPL1, ALOXE3, ARSG, ASPA, ASPSCR1, AXIN2, B9D1, BHLHA9, BRCA1, BRIP1, CACNA1G, CANT1, CARD14, CBX2, CCDC40, CCL2, CD79B, CDC6, CHRNB1, CNTNAP1, COASY, COG1, COL1A1, COX10, CTC1, CTNS, DGKE, DLX3, DNAH9, DNAI2, DPH1, EFTUD2, ELAC2, ENO3, EPX, ERBB2, FAM20A, FDXR, GAA, GFAP, GOSR2, HES7, HNF1B, HOXB1, HOXB13, INPP5K, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KANSL1, KIAA0753, KLHL10, KRT10, KRT13, KRT14, KRT16, KRT17, KRT25, KRT9, MYH2, MYH3, MYH8, MYO15A, NAGLU, NAGS, NEK8, NF1, NLRP1, NUP85, P4HB, PGAP3, PIK3R5, PITPNM3, PNPO, POLG2, PRKCA, PSMC3IP, PYCR1, QRICH2, RAI1, RARA, RHBDF2, RNF213, RNF43, SCN4A, SERPINF1, SGSH, SHPK, SLC13A5, SLC25A19, SLC46A1, SLC52A1, SLC9A3R1, SLFN14, SOX9, STRADA, TBCD, TBX2, TBX21, TCAP, TEX14, TLK2, TMC6, TNFRSF13B, TRIM37, TRPV3, TSEN54, TTC19, UBTF, UNC13D, UNC45B, WDR81, WNK4, 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)
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)
BRCA1 Fanconi anemia, complementation group S, 617883 (3)
{Pancreatic cancer, susceptibility to, 4}, 614320 (3)
{Breast-ovarian cancer, familial, 1}, 604370 (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)
CCL2 {HIV-1, resistance to}, 609423 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
{Spina bifida, susceptibility to}, 182940 (3)
{Coronary artery disease, modifier of} (3)
CD79B Agammaglobulinemia 6, 612692 (3)
CDC6 ?Meier-Gorlin syndrome 5, 613805 (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)
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)
DGKE {Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3)
Nephrotic syndrome, type 7, 615008 (3)
DLX3 Amelogenesis imperfecta, type IV, 104510 (3)
Trichodontoosseous syndrome, 190320 (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)
ELAC2 Combined oxidative phosphorylation deficiency 17, 615440 (3)
{Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3)
ENO3 ?Glycogen storage disease XIII, 612932 (3)
EPX [Eosinophil peroxidase deficiency], 261500 (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)
GAA Glycogen storage disease II, 232300 (3)
GFAP Alexander disease, 203450 (3)
GOSR2 Epilepsy, progressive myoclonic 6, 614018 (3)
HES7 Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)
HNF1B Diabetes mellitus, noninsulin-dependent, 125853 (3)
{Renal cell carcinoma}, 144700 (3)
Renal cysts and diabetes syndrome, 137920 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (3)
HOXB13 {Prostate cancer, hereditary, 9}, 610997 (3)
INPP5K Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (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)
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)
KLHL10 Spermatogenic failure 11, 615081 (3)
KRT10 Ichthyosis with confetti, 609165 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Epidermolytic hyperkeratosis, 113800 (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)
KRT17 Pachyonychia congenita 2, 167210 (3)
Steatocystoma multiplex, 184500 (3)
KRT25 Woolly hair, autosomal recessive 3, 616760 (3)
KRT9 Palmoplantar keratoderma, epidermolytic, 144200 (3)
MYH2 Proximal myopathy and ophthalmoplegia, 605637 (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)
NEK8 Renal-hepatic-pancreatic dysplasia 2, 615415 (3)
?Nephronophthisis 9, 613824 (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)
PGAP3 Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)
PIK3R5 Ataxia-oculomotor apraxia 3, 615217 (3)
PITPNM3 Cone-rod dystrophy 5, 600977 (3)
PNPO Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3)
PRKCA Pituitary tumor, invasive (3)
PSMC3IP Ovarian dysgenesis 3, 614324 (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)
RARA Leukemia, acute promyelocytic, 612376 (1)
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)
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)
STRADA Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (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)
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)
TNFRSF13B Immunodeficiency, common variable, 2, 240500 (3)
Immunoglobulin A deficiency 2, 609529 (3)
TRIM37 Mulibrey nanism, 253250 (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)
TTC19 Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)
UBTF Neurodegeneration, childhood-onset, with brain atrophy, 617672 (3)
UNC13D Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
UNC45B ?Cataract 43, 616279 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3)
WNK4 Pseudohypoaldosteronism, type IIB, 614491 (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, ALOXE3, ASPA, AXIN2, B9D1, BHLHA9, BRCA1, BRIP1, CACNA1G, CANT1, CARD14, CBX2, CCDC137, CCDC40, CD79B, CDC6, CHRNB1, CNTNAP1, COASY, COG1, COL1A1, COX10, CTC1, CTNS, DGKE, DLX3, DNAI2, DPH1, EFTUD2, ELAC2, ENO3, EPX, FAM20A, GAA, GFAP, GOSR2, HES7, HNF1B, HOXB1, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KANSL1, KLHL10, KRT10, KRT13, KRT14, KRT16, KRT17, KRT25, KRT9, MYH2, MYH3, MYH8, MYO15A, NAGLU, NAGS, NEK8, NF1, NLRP1, P4HB, PGAP3, PIK3R5, PITPNM3, PNPO, POLG2, PSMC3IP, PYCR1, RAI1, RHBDF2, RNF135, RNF213, SCN4A, SERPINF1, SERPINF2, SGSH, SLC13A5, SLC25A19, SLC46A1, SLC52A1, SLC9A3R1, SLFN14, SOX9, STRADA, TCAP, TMC6, TNFRSF13B, TRIM37, TRPV3, TSEN54, TTC19, UNC13D, UNC45B, WDR81, WNK4, 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
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
BRCA1 Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
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
CDC6 Meier-Gorlin syndrome 5
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
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
DLX3 Trichodontoosseous syndrome
Amelogenesis imperfecta, type IV
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
ELAC2 Combined oxidative phosphorylation deficiency 17
ENO3 Glycogen storage disease XIII
EPX Eosinophil peroxidase deficiency
FAM20A Amelogenesis imperfecta, type IG (Enamel-renal syndrome)
GAA Glycogen storage disease II
GFAP Alexander disease
GOSR2 Epilepsy, progessive myoclonic 6
HES7 Spondylocostal dysostosis 4, autosomal recessive
HNF1B Renal cell carcinoma, nonpapillary chromophobe
HOXB1 Facial paresis, hereditary congenital, 3
ITGA2B Glanzmann thrombasthenia
ITGA3 Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
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
KLHL10 Spermatogenic failure 11
KRT10 Erythroderma, ichthyosiform, congenital reticular
Aaru disease
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis
Ichthyosis with confetti
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
KRT17 Steatocystoma multiplex
Pachyonychia congenita 2
KRT25 Woolly hair, autosomal recessive 3
KRT9 Palmoplantar keratoderma, epidermolytic
Knuckle pads
MYH2 Inclusion body myopathy 3
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
NEK8 Nephronophthisis 9
NF1 Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
Watson syndrome
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
P4HB Cole Carpenter syndrome 1
PGAP3 Hyperphosphatasia with mental retardation syndrome 4
PIK3R5 Ataxia-oculomotor apraxia 3
PITPNM3 Cone-rod dystrophy 5
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
POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
PSMC3IP Ovarian dysgenesis 3
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
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
STRADA Polyhydramnios, megalencephaly, and symptomatic epilepsy
TCAP Cardiomyopathy, dilated, 1N
Cardiomyopathy, familial hypertrophic 25
Muscular dystrophy, limb-girdle, type 2G
TMC6 Epidermodysplasia verruciformis
TNFRSF13B Immunoglobulin A deficiency 2
Common variable immunodeficiency 2
TRIM37 Mulibrey nanism
TRPV3 Olmsted syndrome
Palmoplantar keratoderma, nonepidermolytic focal 2
TSEN54 Pontocerebellar hypoplasia, type 2A
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
TTC19 Mitochondrial complex III deficiency, nuclear type 2
UNC13D Hemophagocytic lymphohistiocytosis, familial 3
UNC45B Cataract 43
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WNK4 Pseudohypoaldosteronism, type IIB
WRAP53 Dyskeratosis congenita, autosomal recessive 3
ZMYND15 Spermatogenic failure 14
ZNF750 Seborrhea-like dermatitis with psoriasiform elements

Genes at HGMD

Summary

Number of Variants: 2417
Number of Genes: 563

Export to: CSV

AATF

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 sp16_961 17 rs1045056
dbSNP Clinvar
35346641 121.892 T C PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.15675 0.15670 0.24273 None None None None None None AATF|0.980408321|1.45%

AATK

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 sp16_961 17 rs36000545
dbSNP Clinvar
79093822 47.8246 A G PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.35982 0.35980 0.27890 0.43 0.04 None None None None None None AATK|0.00450864|86.39%

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 sp16_961 17 rs557491
dbSNP Clinvar
67267317 652.033 T C PASS 1/1 68 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 sp16_961 17 rs536009
dbSNP Clinvar
67273882 47.9067 C A PASS 0/1 44 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 sp16_961 17 rs17686569
dbSNP Clinvar
67290840 82.2006 T C PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.14377 0.14380 0.17474 0.24 0.00 None None None None None None ABCA5|0.269145961|29.93%
View sp16_961 17 rs11544715
dbSNP Clinvar
67304447 220.046 C T PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.12400 0.12400 0.15132 0.13 0.04 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 sp16_961 17 rs7212506
dbSNP Clinvar
67101718 1161.55 C T PASS 1/1 123 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%

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 sp16_961 17 rs1481
dbSNP Clinvar
66872802 2059.84 G C PASS 1/1 216 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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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1860447
dbSNP Clinvar
67031457 519.795 C T PASS 1/1 55 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 sp16_961 17 rs2302294
dbSNP Clinvar
66985992 157.66 T G PASS 0/1 31 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%
View sp16_961 17 rs2302291
dbSNP Clinvar
67028260 1172.19 T C PASS 1/1 123 SYNONYMOUS_CODING LOW None 0.40695 0.40690 0.47932 None None None None None None ABCA9|0.017284198|75.69%

ABHD15

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 sp16_961 17 rs542939
dbSNP Clinvar
27889986 1111.02 T C PASS 1/1 116 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%

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 sp16_961 17 rs616338
dbSNP Clinvar
47297297 494.637 T C PASS 1/1 62 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 sp16_961 17 rs2262150
dbSNP Clinvar
970413 833.98 C T PASS 1/1 85 SYNONYMOUS_CODING LOW None 0.89697 0.89700 0.13425 None None None None None None ABR|0.634601907|10.64%

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 sp16_961 17 rs2229416
dbSNP Clinvar
35609866 83.266 C T PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.21985 0.21980 0.09726 None None None None None None ACACA|0.94269074|2.39%
View sp16_961 17 rs58654829
dbSNP Clinvar
35696804 157.374 G A PASS 1/1 16 SYNONYMOUS_CODING LOW None 0.58546 0.58550 0.34776 None None None None None None ACACA|0.94269074|2.39%
View sp16_961 17 rs1470452
dbSNP Clinvar
35478362 1254.64 T C PASS 1/1 130 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00108 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 sp16_961 17 rs4796407
dbSNP Clinvar
7245371 94.9231 A G PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.31490 0.31490 0.40697 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 sp16_961 17 rs4343
dbSNP Clinvar
61566031 375.427 G A PASS 0/1 162 SYNONYMOUS_CODING LOW None 0.64317 0.64320 0.43987 None None None None None None ACE|0.894558224|3.56%
View sp16_961 17 rs4309
dbSNP Clinvar
61559923 168.639 C T PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.42352 0.42350 0.33569 None None None None None None ACE|0.894558224|3.56%
View sp16_961 17 rs4316
dbSNP Clinvar
61562309 342.186 C T PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.51917 0.51920 0.42675 None None None None None None ACE|0.894558224|3.56%
View sp16_961 17 rs4362
dbSNP Clinvar
61573761 128.059 T C PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.58746 0.58750 0.49470 None None None None None None ACE|0.894558224|3.56%
View sp16_961 17 rs4331
dbSNP Clinvar
61564052 134.743 A G PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.52955 0.52960 0.44326 None None None None None None ACE|0.894558224|3.56%

ACLY

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs8065502
dbSNP Clinvar
40048613 1183.72 A G PASS 1/1 124 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1135640
dbSNP Clinvar
73949540 89.9414 G C PASS 0/1 50 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%

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 sp16_961 17 rs2305998
dbSNP Clinvar
48549791 98.4593 C G PASS 0/1 45 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.18570 0.18570 0.24427 None None None None None None ACSF2|0.036236332|67.04%
View sp16_961 17 rs9674937
dbSNP Clinvar
48539035 95.34 T C PASS 0/1 20 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1139405
dbSNP Clinvar
79478019 329.558 G A PASS 0/1 133 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs2070605
dbSNP Clinvar
42855554 90.8748 T C PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.64537 0.64540 0.41996 None None None None None None ADAM11|0.131633893|45.66%
View sp16_961 17 rs35936481
dbSNP Clinvar
42851729 325.018 C T PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.64557 0.64560 0.40983 None None None None None None ADAM11|0.131633893|45.66%
View sp16_961 17 rs1558083
dbSNP Clinvar
42852604 87.0467 G T PASS 0/1 60 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 sp16_961 17 rs1558084
dbSNP Clinvar
42852610 85.4473 T C PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.90495 0.90500 0.10518 None None None None None None ADAM11|0.131633893|45.66%
View sp16_961 17 rs8075210
dbSNP Clinvar
42854610 254.396 T C PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.64537 0.64540 0.41973 None None None None None None ADAM11|0.131633893|45.66%

ADPRM

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 sp16_961 17 rs406446
dbSNP Clinvar
10614442 238.353 A G PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.48722 0.48720 0.48770 0.09 0.02 None None None None None None ADPRM|0.084888375|54.22%,TMEM220|0.046283396|63.81%

AIPL1

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 sp16_961 17 rs8075035
dbSNP Clinvar
6331803 878.38 T C PASS 1/1 95 SYNONYMOUS_CODING LOW None 0.57588 0.57590 0.39474 None None None None None None AIPL1|0.064852727|58.69%
View sp16_961 17 rs2292546
dbSNP Clinvar
6330068 267.064 T C PASS 1/1 28 SYNONYMOUS_CODING LOW None 0.71366 0.71370 0.26134 None None None None None None AIPL1|0.064852727|58.69%

AKAP1

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 sp16_961 17 rs2230772
dbSNP Clinvar
55183203 593.89 T C PASS 1/1 63 SYNONYMOUS_CODING LOW None 0.47824 0.47820 0.39136 None None None None None None AKAP1|0.039700237|65.85%
View sp16_961 17 rs1050515
dbSNP Clinvar
55183716 1397.57 T C PASS 1/1 146 SYNONYMOUS_CODING LOW None 0.59066 0.59070 0.45917 None None None None None None AKAP1|0.039700237|65.85%

ALDH3A1

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 sp16_961 17 rs887241
dbSNP Clinvar
19645938 138.9 A C PASS 0/1 48 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 sp16_961 17 rs2072330
dbSNP Clinvar
19644472 153.108 A T PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.29074 0.29070 0.30186 None None None None None None ALDH3A1|0.032163878|68.52%

ALOX12

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 sp16_961 17 rs1042356
dbSNP Clinvar
6902743 65.0628 G A PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.60184 0.60180 0.39466 None None None None None None ALOX12|0.072773622|56.83%
View sp16_961 17 rs434473
dbSNP Clinvar
6904934 189.823 A G PASS 0/1 70 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 sp16_961 17 rs312467
dbSNP Clinvar
6899559 195.154 C G PASS 1/1 21 SYNONYMOUS_CODING LOW None 0.00140 0.94930 None None None None None None ALOX12|0.072773622|56.83%
View sp16_961 17 rs1042357
dbSNP Clinvar
6905061 235.212 T G PASS 0/1 170 SYNONYMOUS_CODING LOW None 0.57228 0.57230 0.42734 None None None None None None ALOX12|0.072773622|56.83%
View sp16_961 17 rs312462
dbSNP Clinvar
6913652 199.84 G A PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.11921 0.11920 0.08873 None None None None None None ALOX12|0.072773622|56.83%
View sp16_961 17 rs1126667
dbSNP Clinvar
6902760 70.8148 A G PASS 0/1 47 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%

ALOX15B

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 sp16_961 17 rs9898751
dbSNP Clinvar
7950952 324.382 C A PASS 0/1 114 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.44748 0.44750 0.44649 None None None None None None ALOX15B|0.008183706|82.49%
View sp16_961 17 rs4792147
dbSNP Clinvar
7951819 248.533 A G PASS 0/1 100 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 sp16_961 17 rs76589243
dbSNP Clinvar
7942901 148.431 C G PASS 0/1 39 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.26358 0.26360 0.22180 None None None None None None ALOX15B|0.008183706|82.49%
View sp16_961 17 rs11541083
dbSNP Clinvar
7950377 242.375 C T PASS 0/1 93 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.24840 0.24840 0.26411 None None None None None None ALOX15B|0.008183706|82.49%
View sp16_961 17 rs6503070
dbSNP Clinvar
7948175 63.5319 C T PASS 0/1 12 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59724 0.59720 0.44572 6.72 0.02 0.40915 T None None None None ALOX15B|0.008183706|82.49%

ALOXE3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs3809881
dbSNP Clinvar
7999957 77.2317 G A PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.42472 0.42470 0.36845 None None None None None None ALOXE3|0.073088496|56.77%
View sp16_961 17 rs3027232
dbSNP Clinvar
8022065 141.517 G A PASS 0/1 51 None None None 0.37400 0.37400 0.00 0.00 None None None None None None ALOXE3|0.073088496|56.77%

AMZ2

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 sp16_961 17 rs3213690
dbSNP Clinvar
66246416 1267.06 A G PASS 1/1 133 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%
View sp16_961 17 rs7105
dbSNP Clinvar
66253095 872.487 T A PASS 1/1 92 SYNONYMOUS_CODING LOW None 0.37061 0.37060 0.31332 None None None None None None AMZ2|0.012004494|79.24%

ANKFN1

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 sp16_961 17 rs957724
dbSNP Clinvar
54450038 531.504 C A PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.61562 0.61560 0.46432 None None None None None None ANKFN1|0.698610051|8.53%
View sp16_961 17 rs8069322
dbSNP Clinvar
54450134 484.596 G A PASS 1/1 50 SYNONYMOUS_CODING LOW None 0.67232 0.67230 0.39474 None None None None None None ANKFN1|0.698610051|8.53%
View sp16_961 17 rs10852985
dbSNP Clinvar
54534634 639.752 G A PASS 1/1 67 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs2020118
dbSNP Clinvar
4088291 776.318 C T PASS 1/1 82 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
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs33986943
dbSNP Clinvar
41004637 245.489 G A PASS 0/1 108 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
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1049379
dbSNP Clinvar
33998802 940.791 G C PASS 1/1 98 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
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs9891156
dbSNP Clinvar
36646386 786.117 A G PASS 1/1 83 SYNONYMOUS_CODING LOW None 0.99082 0.99080 0.02015 None None None None None None ARHGAP23|0.124657713|46.71%
View sp16_961 17 rs7405920
dbSNP Clinvar
36635721 110.735 C T PASS 0/1 27 SYNONYMOUS_CODING LOW None 0.95687 0.95690 0.05105 None None None None None None ARHGAP23|0.124657713|46.71%

ARHGAP27

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs2959953
dbSNP Clinvar
43507008 254.945 G C PASS 1/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.61961 0.61960 0.27764 1.00 0.00 None None None None None None ARHGAP27|0.041158202|65.39%
View sp16_961 17 rs987644816
dbSNP Clinvar
43507507 25.9434 G A PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 6.59 0.16 0.84299 D None None None None ARHGAP27|0.041158202|65.39%

ARHGEF15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs3744651
dbSNP Clinvar
8215534 105.72 C T PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.41693 0.41690 0.34769 None None None None None None ARHGEF15|0.03636471|66.99%
View sp16_961 17 rs871841
dbSNP Clinvar
8216468 801.315 T C PASS 1/1 84 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 sp16_961 17 rs3744647
dbSNP Clinvar
8224276 1097.32 T C PASS 1/1 111 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%

ARRB2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1045280
dbSNP Clinvar
4622638 265.137 C T PASS 0/1 87 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs9972951
dbSNP Clinvar
66391276 534.182 G A PASS 1/1 57 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
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs7212854
dbSNP Clinvar
42254417 18.7107 A G PASS 0/1 17 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%
View sp16_961 17 rs7217858
dbSNP Clinvar
42254527 135.958 T G PASS 0/1 68 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 sp16_961 17 rs7218599
dbSNP Clinvar
42248346 201.631 A T PASS 1/1 22 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%

ASIC2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs2228989
dbSNP Clinvar
32483270 219.52 C G PASS 0/1 85 None None None 0.23223 0.23220 0.14789 None None None None None None ASIC2|0.867321872|4.31%
View sp16_961 17 rs9893935
dbSNP Clinvar
31618732 325.38 A G PASS 0/1 128 SYNONYMOUS_CODING LOW None 0.55990 0.55990 0.48428 None None None None None None ASIC2|0.867321872|4.31%
View sp16_961 17 rs2228990
dbSNP Clinvar
32483237 228.597 A G PASS 0/1 90 None None None 0.27217 0.27220 0.18811 None None None None None None ASIC2|0.867321872|4.31%

ASPA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs773849106
dbSNP Clinvar
3402246 497.96 C T PASS 0/1 202 NON_SYNONYMOUS_CODING MODERATE None 0.14 0.01 None None 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs8074498
dbSNP Clinvar
79954544 190.768 T A PASS 1/1 21 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%
View sp16_961 17 rs13087
dbSNP Clinvar
79974731 50.9799 T C PASS 0/1 28 SYNONYMOUS_CODING LOW None 0.58027 0.58030 0.35362 None None None None None None ASPSCR1|0.049924579|62.68%

ATAD5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs999796
dbSNP Clinvar
29159404 148.33 G C PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.28774 0.28770 0.23674 None None None None None None ATAD5|0.264597723|30.33%
View sp16_961 17 rs9910051
dbSNP Clinvar
29161202 281.797 A T PASS 0/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.28794 0.28790 0.23519 1.00 0.00 None None None None None None ATAD5|0.264597723|30.33%
View sp16_961 17 rs61745366
dbSNP Clinvar
29205072 53.8241 T C PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.06130 0.06130 0.06285 0.00 0.97 None None None None None None ATAD5|0.264597723|30.33%

ATP1B2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs1642763
dbSNP Clinvar
7557419 402.53 A G PASS 0/1 137 SYNONYMOUS_CODING LOW None 0.78994 0.78990 0.19945 None None None None None None ATP1B2|0.217295492|34.69%

ATP2A3

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 sp16_961 17 rs1062683
dbSNP Clinvar
3839685 207.352 G A PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.16953 0.16950 0.20421 None None None None None None ATP2A3|0.0615045|59.44%
View sp16_961 17 rs3179783
dbSNP Clinvar
3840928 92.8601 A G PASS 0/1 54 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.20747 0.20750 0.24189 None None None None None None ATP2A3|0.0615045|59.44%

AURKB

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 sp16_961 17 rs1059476
dbSNP Clinvar
8108331 716.01 A G PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.73602 0.73600 0.17815 0.44 0.00 None None None None None None AURKB|0.524730103|14.76%
View sp16_961 17 rs2241909
dbSNP Clinvar
8108339 748.281 G A PASS 1/1 78 SYNONYMOUS_CODING LOW None 0.62081 0.62080 0.38167 None None None None None None AURKB|0.524730103|14.76%

AXIN2

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 sp16_961 17 rs9915936
dbSNP Clinvar
63533789 633.15 T C PASS 1/1 66 SYNONYMOUS_CODING LOW None 0.90974 0.90970 0.08912 None None None None None None AXIN2|0.837375797|4.92%
View sp16_961 17 rs2240307
dbSNP Clinvar
63554307 580.867 A G PASS 1/1 60 SYNONYMOUS_CODING LOW None 0.07867 0.07867 0.02837 None None None None None None AXIN2|0.837375797|4.92%
View sp16_961 17 rs1133683
dbSNP Clinvar
63533768 627.489 G A PASS 1/1 70 SYNONYMOUS_CODING LOW None 0.44609 0.44610 0.45993 None None None None None None AXIN2|0.837375797|4.92%

AZI1

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 sp16_961 17 rs1542961
dbSNP Clinvar
79170576 204.481 C T PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.22125 0.22120 0.36118 None None None None None None CEP131|0.010879041|80.18%
View sp16_961 17 rs2659016
dbSNP Clinvar
79171967 857.592 A G PASS 1/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.96765 0.96770 0.03054 0.56 0.00 None None None None None None CEP131|0.010879041|80.18%
View sp16_961 17 rs2279922
dbSNP Clinvar
79164707 196.751 C T PASS 0/1 83 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.03694 0.03694 0.00570 None None None None None None CEP131|0.010879041|80.18%
View sp16_961 17 rs74006007
dbSNP Clinvar
79163758 206.28 G A PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.04513 0.04513 0.01369 0.81 0.06 None None None None None None CEP131|0.010879041|80.18%
View sp16_961 17 rs2292182
dbSNP Clinvar
79163649 163.746 G A PASS 0/1 67 None None None 0.20228 0.20230 0.20091 None None None None None None CEP131|0.010879041|80.18%
View sp16_961 17 rs2466773
dbSNP Clinvar
79174221 306.1 T C PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.94409 0.94410 0.05255 1.00 0.00 None None None None None None CEP131|0.010879041|80.18%
View sp16_961 17 rs2659015
dbSNP Clinvar
79173184 1170.7 T C PASS 1/1 123 NON_SYNONYMOUS_CODING MODERATE None 0.94070 0.94070 0.05563 1.00 0.00 None None None None None None CEP131|0.010879041|80.18%
View sp16_961 17 rs2725419
dbSNP Clinvar
79173224 1261.3 T C PASS 1/1 134 SYNONYMOUS_CODING LOW None 0.90935 0.90930 0.08224 None None None None None None CEP131|0.010879041|80.18%

B3GNTL1

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 sp16_961 17 rs7406119
dbSNP Clinvar
81006629 50.291 C T PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.19329 0.19330 0.22774 None None None None None None B3GNTL1|0.011137192|79.94%
View sp16_961 17 rs4986144
dbSNP Clinvar
80923536 104.215 C T PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.22304 0.22300 0.27038 None None None None None None B3GNTL1|0.011137192|79.94%