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
RS771013793 SPOUT1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS771013981 EPRS1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS771014370 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 8
RS771014822 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS771015295 NALCN Health Risk Likely pathogenic —
RS771016186 RASA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Capillary malformation-arteriovenous malformation syndrome
RS771016864 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS771017427 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS771018434 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS771019056 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS771019219 SMARCA2 Health Risk Conflicting classifications of pathogenicity Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS771019349 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS771019366 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS771019738 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS771021206 WAC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771021431 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS771021560 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS771021569 ASAH1 Health Risk Conflicting classifications of pathogenicity —
RS771022240 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS771022595 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease
RS771024022 HMGCL Health Risk Conflicting classifications of pathogenicity Deficiency of hydroxymethylglutaryl-CoA lyase, HMGCL-related disorder
RS771024050 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS771025937 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS771026197 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early-infantile DEE
RS771026953 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Inborn genetic diseases
RS771027814 FLG Health Risk Pathogenic —
RS771028541 HADHA Health Risk Pathogenic/Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS771028677 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS771028755 GMPPB Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS771028960 SLC2A10 Health Risk Pathogenic Arterial tortuosity syndrome, Cardiovascular phenotype
RS771030765 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS771030841 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS771031428 SKIC3 Health Risk Pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS771031586 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Inborn genetic diseases
RS771031903 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS771032027 REN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771034207 MEF2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with hypotonia
RS771034958 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS771035296 IL17RC Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS771036052 MRPS22 Health Risk Likely pathogenic Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia
RS771036207 SQSTM1 Health Risk Conflicting classifications of pathogenicity Paget disease of bone 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
RS771036273 ADAMTSL4 Health Risk Pathogenic —
RS771036360 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4
RS771036445 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS771036480 IL12B Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
RS771038257 SNX10 Health Risk Likely pathogenic —
RS771038310 ABCA4 Health Risk Likely pathogenic ABCA4-related disorder, Retinal dystrophy
RS771039023 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS77103971 RNASEH2A Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 4, Aicardi Goutieres syndrome
RS771040551 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS771041636 RP1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771042751 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS771043544 LRP5 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS771044689 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS771044828 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS771044846 AFF4 Health Risk Conflicting classifications of pathogenicity Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, AFF4-related disorder
RS771045558 RELT Health Risk Likely pathogenic Amelogenesis imperfecta, Amelogenesis imperfecta
RS771045945 COG8 Health Risk Likely pathogenic COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
RS771046502 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS771046654 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS771047560 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS771047931 BMP4 Health Risk Conflicting classifications of pathogenicity Orofacial cleft 11, Microphthalmia with brain and digit anomalies
RS771048666 GP1BA Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard-Soulier syndrome
RS771049445 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS771049726 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS77104978 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS771049807 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS771050596 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS771051185 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS771051299 CARD11 Health Risk Pathogenic BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS771051473 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS771051897 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS771051927 TGM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771053425 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS771053807 ACE Health Risk Likely pathogenic —
RS771054395 ARL6 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Bardet-Biedl syndrome 3
RS771055145 TYRP1 Health Risk Conflicting classifications of pathogenicity Ocular albinism, Oculocutaneous albinism type 3
RS771055189 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS771055207 GFM1 Health Risk Pathogenic —
RS771055660 MOCS2 Health Risk Pathogenic —
RS771056448 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS771057161 ZMPSTE24 Health Risk Pathogenic —
RS771057519 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS771057685 CCDC39 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS771058410 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS771058795 WDR1 Health Risk Pathogenic Lazy leukocyte syndrome, Lazy leukocyte syndrome
RS771059047 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N
RS771059835 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Inborn genetic diseases
RS771060960 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS771061550 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS771061715 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS77106213 SCN1B Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 5
RS771062534 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS771063284 WRAP53 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 3
RS771063294 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS771063630 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS771063992 DNAJC21 Health Risk Pathogenic/Likely pathogenic DNAJC21-related disorder, Bone marrow failure syndrome 3
RS771064257 GSDME Health Risk Conflicting classifications of pathogenicity —
RS771064558 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS771064865 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
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