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
RS1555202614 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1555202636 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS1555202642 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1555202645 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1555202654 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS1555202656 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1555202657 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1555202662 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS1555202681 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1555202687 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS1555202695 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS1555202697 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS1555202698 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1555202700 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS1555202731 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1555202737 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1555202740 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1555202801 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1555202806 BBS10 Health Risk Pathogenic Inborn genetic diseases, Bardet-Biedl syndrome
RS1555202947 TBK1 Health Risk risk factor Encephalopathy, acute
RS1555203363 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1555203401 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1555203557 TBK1 Health Risk risk factor Encephalopathy, acute
RS1555203666 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1555203681 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1555203737 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1555203761 PAH Health Risk Pathogenic —
RS1555203951 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1555204095 TBK1 Health Risk Likely pathogenic —
RS1555204295 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1555204434 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1555204441 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1555204492 PAH Health Risk Pathogenic/Likely pathogenic Phenylketonuria, Phenylketonuria
RS1555204615 TRPV4 Health Risk Likely pathogenic —
RS1555204711 PAH Health Risk Pathogenic/Likely pathogenic Phenylketonuria, Phenylketonuria
RS1555204731 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Primary open angle glaucoma
RS1555204750 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1555205328 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS1555205335 TRPV4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555205375 LIMA1 Health Risk association LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8, LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8
RS1555205655 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1555206128 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS1555206402 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS1555206566 PFKM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VII
RS1555207826 DPAGT1 Health Risk Pathogenic Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation
RS1555207979 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1555208063 TRPV4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C
RS1555208180 CEP290 Health Risk Pathogenic —
RS1555208375 TMEM126A Health Risk Likely pathogenic —
RS1555208596 RPS26 Health Risk Pathogenic Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10
RS1555208696 GDF2 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1555208870 CEP290 Health Risk Pathogenic Joubert syndrome 5, Retinal dystrophy
RS1555209009 GDF2 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1555209575 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1555209578 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1555209932 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1555210473 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, 6 conditions
RS1555210478 HNF1A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1555210929 RBP3 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555211286 RBP3 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 66, Retinitis pigmentosa 66
RS1555211426 HNF1A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1555211434 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1555211436 HNF1A Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Maturity-onset diabetes of the young
RS1555211448 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1555211904 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 3
RS1555211922 HNF1A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1555211935 HNF1A Health Risk Likely pathogenic Monogenic diabetes, HNF1A-related disorder
RS1555211975 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1555211999 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1555212014 HNF1A Health Risk Pathogenic 6 conditions, Maturity-onset diabetes of the young
RS1555212150 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1555212248 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS1555212271 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1555212359 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS1555212363 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1555212396 HNF1A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1555212749 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS1555213161 CEP290 Health Risk Likely pathogenic —
RS1555213204 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 4
RS1555213545 CRADD Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 34
RS1555214288 PTPRQ Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal dominant 73
RS1555216163 MYF5 Health Risk Pathogenic Ophthalmoplegia, external
RS1555216730 CEP290 Health Risk Pathogenic Retinitis pigmentosa, Nephronophthisis
RS1555217024 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1555217342 SCN8A Health Risk Pathogenic Complex neurodevelopmental disorder, Early-infantile DEE
RS1555218610 SCN8A Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1555218630 SCN8A Health Risk Likely pathogenic SCN8A-related epileptic disorder, Developmental and epileptic encephalopathy
RS1555218644 SCN8A Health Risk Likely pathogenic Autosomal recessive inheritance, Global developmental delay
RS1555218657 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1555218898 CEP290 Health Risk Pathogenic Joubert syndrome 5, Joubert syndrome 5
RS1555219147 SCN8A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1555219158 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1555219494 SCN8A Health Risk Likely pathogenic —
RS1555219495 SCN8A Health Risk Likely pathogenic SCN8A-related disorder, SCN8A-related disorder
RS1555219864 SCN8A Health Risk Likely pathogenic —
RS1555220398 GNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-D
RS1555220625 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1555220638 CEP290 Health Risk Pathogenic Leber congenital amaurosis, Meckel syndrome
RS1555220868 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555220905 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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