SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2474992925 PIGG Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 53
RS2474995471 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS2474996811 LIAS Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS2475008191 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2475008261 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS2475008526 DOK7 Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS2475008871 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS2475010670 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2475017049 OPA1 Health Risk Pathogenic —
RS2475017130 OPA1 Health Risk Pathogenic —
RS2475018588 OPA1 Health Risk Pathogenic —
RS2475019623 CC2D2A Health Risk Likely pathogenic —
RS2475019890 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2475022046 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2475026265 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2475031974 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS2475033368 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2475041330 CC2D2A Health Risk Pathogenic Joubert syndrome 9, Meckel syndrome
RS2475046362 CC2D2A Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2475046668 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2475049976 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS2475050239 PROM1 Health Risk Pathogenic —
RS2475050827 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS2475050873 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS2475051035 OPA1 Health Risk Pathogenic OPA1-related disorder, OPA1-related disorder
RS2475051413 CC2D2A Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2475052844 DOK7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10, Congenital myasthenic syndrome 10
RS2475052908 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS2475053000 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS2475056620 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2475058279 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2475059446 CPLX1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 63
RS2475060255 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2475061426 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2475062325 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2475074578 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2475075477 WDR19 Health Risk Pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS2475075544 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS2475076757 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS2475079378 OPA1 Health Risk Pathogenic —
RS2475079967 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2475082619 WDR19 Health Risk Likely pathogenic Nephronophthisis 13, Nephronophthisis 13
RS2475082705 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2475083325 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2475083643 COL4A4 Health Risk Pathogenic —
RS2475085768 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2475086430 TEC Health Risk Likely pathogenic —
RS2475092769 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2475092773 CC2D2A Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2475092915 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2475093346 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2475093374 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2475093512 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2475093534 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2475104632 PROM1 Health Risk Likely pathogenic Cone-rod dystrophy 12, Cone-rod dystrophy 12
RS2475106059 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2475106281 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2475109793 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS2475110217 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS2475110229 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS2475110434 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS2475110558 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS2475110673 DOK7 Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS2475110727 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS2475111580 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS2475112419 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS2475113873 DOK7 Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS2475114996 DOK7 Health Risk Pathogenic/Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 1
RS2475115215 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS2475115360 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS2475115425 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS2475116151 DOK7 Health Risk Likely pathogenic DOK7-related disorder, DOK7-related disorder
RS2475116375 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS2475116486 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS2475116505 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS2475116637 DOK7 Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS2475116680 DOK7 Health Risk Likely pathogenic Congenital myasthenic syndrome, Congenital myasthenic syndrome
RS2475116712 DOK7 Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS2475117449 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS2475118166 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS2475123994 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2475124100 CC2D2A Health Risk Pathogenic Meckel syndrome, type 6
RS2475127412 WDR19 Health Risk Likely pathogenic Nephronophthisis 13, Nephronophthisis 13
RS2475127881 CC2D2A Health Risk Likely pathogenic Joubert syndrome 9, Joubert syndrome 9
RS2475128123 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2475133808 OPA1 Health Risk Pathogenic —
RS2475134399 OPA1 Health Risk Pathogenic —
RS2475134740 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS2475135115 OPA1 Health Risk Pathogenic Optic atrophy, Optic atrophy
RS2475135585 OPA1 Health Risk Likely pathogenic —
RS2475144110 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2475148033 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2475148089 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2475148144 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2475156660 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2475157096 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2475157352 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2475157423 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2475159965 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2475161097 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
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