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
RS116807569 AGPAT2 Health Risk Pathogenic Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy
RS1168076308 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS1168089009 DUOX2 Health Risk Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS116809571 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1168101857 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa
RS1168106708 DOK7 Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome, Congenital myasthenic syndrome 10
RS1168117828 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS116812032 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS1168129071 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1168132298 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1168144507 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS116814498 REPS1 Health Risk Conflicting classifications of pathogenicity —
RS1168146969 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS1168180592 FLG Health Risk Pathogenic —
RS1168183069 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS1168208619 LAMA5 Health Risk Pathogenic Nephrotic syndrome, IIa 26
RS116823334 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1168254533 KPNA7 Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 17, Oocyte/zygote/embryo maturation arrest 17
RS116826217 LARS2 Health Risk Conflicting classifications of pathogenicity Inborn mitochondrial myopathy, Inborn mitochondrial myopathy
RS1168273921 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1168286961 NPHP4 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Nephronophthisis 4
RS1168314722 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy
RS116833707 MYO15A Health Risk Conflicting classifications of pathogenicity MYO15A-related disorder, MYO15A-related disorder
RS1168346560 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS1168346867 RPGRIP1L Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1168352165 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS116836001 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS1168363417 RORB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1168366157 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS116836855 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS1168371801 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1168374610 GRIN2B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 27
RS1168388514 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS1168396288 PCSK1 Health Risk Likely pathogenic Obesity due to prohormone convertase I deficiency, Obesity due to prohormone convertase I deficiency
RS1168397543 SERPING1 Health Risk Pathogenic —
RS1168400018 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS1168401498 FECH Health Risk Pathogenic —
RS116840743 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Pallister-Hall syndrome
RS116840744 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Pallister-Hall syndrome
RS116840751 GLI3 Health Risk Pathogenic —
RS116840754 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Pallister-Hall syndrome
RS116840758 GLI3 Health Risk Likely pathogenic —
RS116840766 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS116840767 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Pallister-Hall syndrome
RS116840768 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Pallister-Hall syndrome
RS116840770 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS116840773 CAV3 Health Risk Likely pathogenic Rippling muscle disease 2, Rippling muscle disease 2
RS116840776 CAV3 Health Risk Conflicting classifications of pathogenicity Rippling muscle disease 2, Limb-girdle muscular dystrophy
RS116840778 CAV3 Health Risk Conflicting classifications of pathogenicity Elevated circulating creatine kinase concentration, Rippling muscle disease 2
RS116840782 CAV3 Health Risk Likely pathogenic Rippling muscle disease 2, Rippling muscle disease 2
RS116840787 CAV3 Health Risk Pathogenic Long QT syndrome, Distal myopathy
RS116840789 CAV3 Health Risk Pathogenic/Likely pathogenic Rippling muscle disease 2, Elevated circulating creatine kinase concentration
RS116840795 CAV3 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiomyopathy
RS116840796 CAV3 Health Risk Likely pathogenic CAV3-related disorder, CAV3-related disorder
RS116840805 CAV3 Health Risk Pathogenic Rippling muscle disease 2, Long QT syndrome
RS116840806 RPS24 Health Risk Pathogenic Diamond-Blackfan anemia 3, Diamond-Blackfan anemia 3
RS116840807 RPL35A Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
RS116840808 RPL35A Health Risk Pathogenic Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
RS116840809 RPL35A Health Risk Pathogenic Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
RS116840811 RPS17 Health Risk Pathogenic Diamond-Blackfan anemia 4, Diamond-Blackfan anemia
RS116840812 RPS17 Health Risk Pathogenic Diamond-Blackfan anemia 4, Diamond-Blackfan anemia 4
RS116840815 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X
RS116840818 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease
RS116840819 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X
RS116840821 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X
RS116840822 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease
RS116840823 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS116841148 LDHA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
RS1168415754 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS1168427805 MMP2 Health Risk Pathogenic Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS1168428802 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS116843064 ANGPTL4 Health Risk association Plasma triglyceride level quantitative trait locus, Plasma triglyceride level quantitative trait locus
RS1168431515 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS1168449484 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS116845100 TCTN2 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 24, Meckel syndrome
RS1168451622 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS116846245 AHCY Health Risk Conflicting classifications of pathogenicity Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, AHCY-related disorder
RS1168470052 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1168480900 CLRN1 Health Risk Pathogenic —
RS116848967 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Inborn genetic diseases
RS1168492424 PEX13 Health Risk Likely pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS1168493593 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS1168511209 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1168529666 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1168540279 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS1168540941 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1168542133 CEP290 Health Risk Pathogenic Bardet-Biedl syndrome 14, Joubert syndrome 5
RS1168548075 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS1168560365 F7 Health Risk Pathogenic/Likely pathogenic Congenital factor VII deficiency, Congenital factor VII deficiency
RS1168572368 CTRC Health Risk Pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS1168592296 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS1168594259 APOB Health Risk Likely pathogenic Familial hypobetalipoproteinemia 1, Familial hypobetalipoproteinemia 1
RS1168625480 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1168641193 POLR3A Health Risk Pathogenic/Likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy
RS1168653552 SCARB2 Health Risk Likely pathogenic Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome
RS1168668932 SZT2 Health Risk Pathogenic —
RS1168669263 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1168679768 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS1168687230 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS1168688853 ASNS Health Risk Pathogenic —
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