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
RS1359105410 C12orf57 Health Risk Pathogenic Temtamy syndrome, Temtamy syndrome
RS1359106679 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1359108756 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1359109336 USH1G Health Risk Pathogenic Usher syndrome type 1G, Usher syndrome type 1G
RS1359141230 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1359141531 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Heterotopia
RS1359152024 CUL7 Health Risk Likely pathogenic 3-M syndrome, 3-M syndrome
RS1359164384 MED17 Health Risk Likely pathogenic —
RS1359166382 TTLL5 Health Risk Likely pathogenic —
RS1359172781 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS1359183911 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1359208225 KMT2C Health Risk Pathogenic —
RS1359241037 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia 13, Primary ciliary dyskinesia 13
RS1359244955 MYO15A Health Risk Pathogenic —
RS1359262571 TRIO Health Risk Pathogenic —
RS1359277013 SLC24A5 Health Risk Pathogenic —
RS1359281521 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1359321518 GDF1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Heterotaxy
RS1359327577 CFTR Health Risk Likely pathogenic Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1
RS1359327847 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1359334884 GZF1 Health Risk Pathogenic —
RS1359338583 RP1 Health Risk Pathogenic Retinitis pigmentosa 1, Retinal dystrophy
RS1359346386 GFM1 Health Risk Pathogenic —
RS1359353262 PCSK1 Health Risk Likely pathogenic PCSK1-related disorder, PCSK1-related disorder
RS1359357677 TCF12 Health Risk Pathogenic —
RS1359361476 DHFR Health Risk Conflicting classifications of pathogenicity —
RS1359367948 GDAP1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease axonal type 2K
RS1359369718 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1359373777 INPP5E Health Risk Pathogenic Joubert syndrome 1, Joubert syndrome 1
RS1359376928 NRXN1 Health Risk Likely pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS1359404443 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1359408831 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS1359411004 MCEE Health Risk Pathogenic Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
RS1359437084 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 17
RS1359437833 LARGE1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS1359458155 SLC4A1 Health Risk Pathogenic/Likely pathogenic —
RS1359478892 RDH5 Health Risk Pathogenic —
RS1359479064 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1359482508 HSD17B4 Health Risk Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1359484392 UNC80 Health Risk Pathogenic Hypotonia, infantile
RS1359518284 ACADS Health Risk Likely pathogenic —
RS1359522025 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
RS1359540820 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1359551200 MRE11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1359574944 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1359575116 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS1359577297 MADD Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1359582686 TAOK1 Health Risk Pathogenic TAOK1-related disorder, TAOK1-related disorder
RS1359585490 STX3 Health Risk Pathogenic Retinal dystrophy and microvillus inclusion disease, Retinal dystrophy and microvillus inclusion disease
RS1359599082 BRPF1 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with dysmorphic facies and ptosis, Inborn genetic diseases
RS1359602238 TECPR2 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS1359618876 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1359621977 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1359631755 PAX1 Health Risk Pathogenic —
RS1359635065 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS1359661881 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, See cases
RS1359687163 PSMB8 Health Risk Pathogenic Proteasome-associated autoinflammatory syndrome 1, Proteasome-associated autoinflammatory syndrome 1
RS1359713084 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS1359760798 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS1359774813 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1359777462 FIG4 Health Risk Likely pathogenic FIG4-related disorder, FIG4-related disorder
RS1359798259 EMC1 Health Risk Pathogenic —
RS1359810808 NDUFAF5 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 16
RS1359811582 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS1359827243 MTR Health Risk Likely pathogenic MTR-related disorder, MTR-related disorder
RS1359844902 EEF1A2 Health Risk Likely pathogenic EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy, EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy
RS1359847895 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS1359856569 ABCC6 Health Risk Pathogenic/Likely pathogenic —
RS1359874667 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1359876093 VPS13A Health Risk Likely pathogenic —
RS1359892832 OPTN Health Risk Pathogenic Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12
RS1359896342 DDX11 Health Risk Likely pathogenic —
RS1359922150 CYP19A1 Health Risk Pathogenic —
RS1359968264 NEFH Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2CC, Charcot-Marie-Tooth disease axonal type 2CC
RS1359975493 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1359982302 UBE3B Health Risk Pathogenic —
RS1359984033 COMP Health Risk Pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS1360000258 PDE6B Health Risk Pathogenic —
RS1360001006 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1360001910 SLC26A3 Health Risk Likely pathogenic —
RS1360003941 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1360058966 POLR3B Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS1360071443 GP1BB Health Risk Pathogenic Macrothrombocytopenia, Thrombocytopenia
RS1360092016 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1360128571 INTU Health Risk Likely pathogenic Short rib-polydactyly syndrome, Short-rib thoracic dysplasia 20 with polydactyly
RS1360142371 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5C, with pyloric atresia
RS1360145032 NEK1 Health Risk Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS1360157605 PCNT Health Risk Pathogenic —
RS1360158770 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1360167769 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS1360208732 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS1360212575 YARS1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental delay, Charcot-Marie-Tooth disease dominant intermediate C
RS1360258103 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1360260127 FAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1360260333 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1360260625 POT1 Health Risk Likely pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS1360278309 TUBGCP4 Health Risk Likely pathogenic —
RS1360279030 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1360279134 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Inborn genetic diseases
RS1360282089 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
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