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
RS119485088 GAN Health Risk Pathogenic/Likely pathogenic Giant axonal neuropathy 1, Inborn genetic diseases
RS119485089 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS119485090 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS119485092 GAN Health Risk Likely pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS119485093 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS119485094 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS119485095 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS119486096 MINPP1 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS1194865614 SERPINE1 Health Risk Pathogenic Congenital plasminogen activator inhibitor type 1 deficiency, Congenital plasminogen activator inhibitor type 1 deficiency
RS119488099 LGI1 Health Risk Pathogenic/Likely pathogenic Epilepsy, familial temporal lobe
RS119488100 LGI1 Health Risk Pathogenic Epilepsy, familial temporal lobe
RS119489101 EFEMP2 Health Risk Pathogenic Cutis laxa, autosomal recessive
RS119489102 EFEMP2 Health Risk Likely pathogenic Cutis laxa, autosomal recessive
RS119489103 MAPK8IP1 Health Risk risk factor Diabetes mellitus type 2, susceptibility to
RS119489104 HOXA2 Health Risk Pathogenic Bilateral microtia-deafness-cleft palate syndrome, Bilateral microtia-deafness-cleft palate syndrome
RS119489105 MERTK Health Risk Pathogenic Retinitis pigmentosa 38, Autosomal recessive retinitis pigmentosa
RS119490107 RAD54B Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS119490108 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS1194909078 RASA2 Health Risk Conflicting classifications of pathogenicity —
RS119491109 SLC17A5 Health Risk Likely pathogenic Sialic acid storage disease, severe infantile type
RS119491110 SLC17A5 Health Risk Pathogenic/Likely pathogenic Sialic acid storage disease, severe infantile type
RS1194929977 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Decreased circulating carnitine concentration
RS1194936880 FADD Health Risk Conflicting classifications of pathogenicity FADD-related immunodeficiency, Inborn genetic diseases
RS1194942976 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS1194966893 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS1194981313 TTN Health Risk Conflicting classifications of pathogenicity —
RS1194990135 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1194990534 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C
RS1195002362 MYH14 Health Risk Conflicting classifications of pathogenicity —
RS1195050131 ZMYND10 Health Risk Likely pathogenic ZMYND10-related disorder, ZMYND10-related disorder
RS1195064309 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS1195091149 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Lymphangiomyomatosis
RS1195103622 TG Health Risk Pathogenic —
RS1195128294 NPHP4 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS1195128790 SPTBN2 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14
RS1195131327 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1195158694 CYP1B1 Health Risk Likely pathogenic Anterior segment dysgenesis 6, CYP1B1-related glaucoma with or without anterior segment dysgenesis
RS1195159317 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Seizures
RS1195164931 COL17A1 Health Risk Likely pathogenic Epidermolysis bullosa, junctional 4
RS1195177013 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum
RS11952056 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1195259002 PCARE Health Risk Pathogenic —
RS1195259425 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1195260459 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1195263093 ZFPM2 Health Risk Pathogenic 46, XY sex reversal 9
RS1195276132 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1195283929 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1195320854 EXOC6B Health Risk Pathogenic/Likely pathogenic —
RS1195336111 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1195336213 PIKFYVE Health Risk Likely pathogenic Fleck corneal dystrophy, Fleck corneal dystrophy
RS1195341481 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS1195346607 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1195350202 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1195350614 SLC45A2 Health Risk Pathogenic —
RS1195374954 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS1195376092 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1195379895 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS1195383216 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1195394908 XDH Health Risk Likely pathogenic Hereditary xanthinuria type 1, Hereditary xanthinuria type 1
RS1195401812 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder
RS1195403033 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1195416744 DNMT3A Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS1195417407 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1195418667 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1195430987 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1195475275 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1195475569 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1195493908 USP9X Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1195505218 SLC25A22 Health Risk Pathogenic Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS1195513248 LRP2 Health Risk Likely pathogenic —
RS1195519595 ARL6 Health Risk Likely pathogenic Bardet-Biedl syndrome 3, Retinitis pigmentosa 55
RS1195522061 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1195530396 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS1195533596 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1195543019 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1195549484 HPS6 Health Risk Pathogenic —
RS1195572987 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1195580419 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1195592039 TRIP12 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Clark-Baraitser syndrome
RS1195594601 KIF1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 9
RS1195611781 ABCA3 Health Risk Conflicting classifications of pathogenicity Hereditary pulmonary alveolar proteinosis, Interstitial lung disease due to ABCA3 deficiency
RS1195620730 VWF Health Risk Pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS1195642515 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1195644432 RTTN Health Risk Pathogenic/Likely pathogenic RTTN-related disorder, RTTN-related disorder
RS1195670739 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1195683882 EYS Health Risk Pathogenic —
RS1195692356 GJB2 Health Risk Pathogenic —
RS1195694707 ADAMTS18 Health Risk Pathogenic/Likely pathogenic —
RS1195711941 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1195721615 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1195734631 TRPM1 Health Risk Pathogenic Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS1195734687 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS1195745037 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1195745791 MIB1 Health Risk Likely pathogenic Left ventricular noncompaction 7, Left ventricular noncompaction 7
RS1195746445 CA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1195760289 PKLR Health Risk Pathogenic —
RS1195779037 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS1195785709 GNPTG Health Risk Pathogenic —
RS1195793509 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1195818093 ST3GAL3 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 15
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