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
RS1294428728 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1294430125 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS1294449428 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1294455750 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1294460452 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS1294485971 ABCC6 Health Risk Pathogenic —
RS1294489336 TNNI3K Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 2, Arrhythmogenic right ventricular dysplasia 2
RS1294492338 DSP Health Risk Likely pathogenic —
RS1294509946 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS1294523865 KDM6B Health Risk Likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, KDM6B-related disorder
RS1294526096 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS1294533558 MFAP5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1294545669 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1294556697 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1294578913 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Breast carcinoma
RS1294581001 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1294620045 SI Health Risk Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1294621553 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1294629921 DOLK Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, DK1-congenital disorder of glycosylation
RS1294641190 IRF2BPL Health Risk Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS1294643628 QARS1 Health Risk Likely pathogenic —
RS12946486 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1294650594 SLX4 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group P
RS1294653855 KCNH5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS1294665232 KRT5 Health Risk Pathogenic —
RS1294670888 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1294679246 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1294679653 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1294683568 PIGG Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 53
RS1294693530 NPHP4 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS1294704273 ODAD1 Health Risk Pathogenic/Likely pathogenic ODAD1-related disorder, Primary ciliary dyskinesia 20
RS1294714307 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS1294714405 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS1294715119 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1294718974 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1294731623 AQP2 Health Risk Pathogenic —
RS1294733964 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS1294734737 DNAI1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS1294759353 USH1C Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS1294791314 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS1294799200 TRIM37 Health Risk Pathogenic/Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS12948217 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS1294838201 SLC7A9 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS1294860969 TREM2 Health Risk Pathogenic —
RS1294865855 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1294936198 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1294950721 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1294973649 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS1294976647 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1294990891 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, ACP5-related disorder
RS1294996414 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS1295000119 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS1295003726 EMC1 Health Risk Pathogenic —
RS1295003944 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Glioma susceptibility 1
RS1295003959 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1295015390 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS1295045178 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1295062471 OTOG Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS1295072436 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SCN1A-related disorder
RS1295089623 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1295123083 KPTN Health Risk Pathogenic Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome
RS1295137307 ARID1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14
RS1295142218 SPEG Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS1295144399 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS1295162107 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1295167678 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1295168770 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS1295182898 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1295191218 P3H2 Health Risk Likely pathogenic —
RS1295192121 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1295192882 SCN9A Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS1295193195 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1295194870 SLC4A11 Health Risk Likely pathogenic —
RS1295198168 WWOX Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS1295205981 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS1295206142 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS1295207359 PRKCD Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
RS1295218502 ALDH3A2 Health Risk Pathogenic/Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS1295236603 TYMP Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1295239305 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1295259849 PROM1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1295275193 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7
RS1295277764 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1295277804 TMC1 Health Risk Pathogenic —
RS1295294313 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS1295295164 GLB1 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS1295297874 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1295305811 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1295318869 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1295335940 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS1295343500 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1295357202 NOTCH3 Health Risk Pathogenic —
RS1295357399 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS1295389410 SZT2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 18
RS1295394996 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1295396384 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1295402252 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1295420243 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1295421967 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1295432172 KMT2E Health Risk Pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
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