SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS867426247 ECM1 Health Risk Pathogenic Lipid proteinosis, Lipid proteinosis
RS867437443 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases
RS867446205 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS867450807 ALG8 Health Risk Likely pathogenic Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation
RS867451051 ILK Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS867451420 ACBD5 Health Risk Pathogenic Retinal dystrophy with leukodystrophy, Retinal dystrophy with leukodystrophy
RS867456178 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS867460475 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS867461743 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS867467817 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS867468579 PDK3 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6
RS867476489 TTN Health Risk Likely pathogenic —
RS867478668 WDR87 Health Risk Conflicting classifications of pathogenicity —
RS867479692 VPS13D Health Risk Likely pathogenic —
RS867483436 CNGA1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS867494661 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS867502251 PRKAG2 Health Risk Conflicting classifications of pathogenicity Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6
RS867503066 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Intellectual disability
RS867518898 ERCC1 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 4, Cerebrooculofacioskeletal syndrome 4
RS867520754 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Developmental delay
RS867525294 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis, Progressive familial intrahepatic cholestasis type 2
RS867527050 C5 Health Risk Pathogenic —
RS867527641 C1QB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, C1Q deficiency 2
RS867530230 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder
RS867531606 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS867536416 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS867538940 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS867539471 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS867543866 KCNK9 Health Risk Likely pathogenic Birk-Barel syndrome, Inborn genetic diseases
RS867544010 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS867546656 PCDH12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS867553974 GRIN2B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 27
RS867562406 LAS1L Health Risk Conflicting classifications of pathogenicity Wilson-Turner syndrome, Wilson-Turner syndrome
RS867564993 KCNQ1 Health Risk Conflicting classifications of pathogenicity Jervell and Lange-Nielsen syndrome 1, Cardiovascular phenotype
RS867575163 NCF4 Health Risk Likely pathogenic Chronic granulomatous disease, Chronic granulomatous disease
RS867576281 MED12 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS867577632 SERPINF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS867577834 BEST1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS867580676 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS867581817 FOXC1 Health Risk Likely pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS867583888 DSPP Health Risk Likely pathogenic —
RS867587467 SCN4A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS867593888 MYH9 Health Risk Pathogenic 10 conditions, MYH9-related disorder
RS867598503 SMCHD1 Health Risk Pathogenic —
RS867599353 ALG13 Health Risk Pathogenic Developmental and epileptic encephalopathy, 36
RS867609005 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS867610056 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS867612284 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS867618155 CNTN2 Health Risk Pathogenic Epilepsy, familial adult myoclonic
RS867618642 GLRA1 Health Risk Pathogenic —
RS867625069 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS867628133 KCND3 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS867628179 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS867628651 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS867630021 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS867630446 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS867630648 CTNS Health Risk Pathogenic/Likely pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS867634700 COASY Health Risk Pathogenic Neurodegeneration with brain iron accumulation 6, Neurodegeneration with brain iron accumulation 6
RS867638588 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS867641094 TBX5 Health Risk Pathogenic —
RS867642414 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS867643439 TPO Health Risk Pathogenic/Likely pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS867654589 ABCA4 Health Risk Pathogenic —
RS867654871 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS867655376 MED12 Health Risk Likely pathogenic FG syndrome 1, FG syndrome 1
RS867660463 SCN8A Health Risk Conflicting classifications of pathogenicity Global developmental delay, Seizure
RS867663974 SCN2A Health Risk Likely pathogenic Complex neurodevelopmental disorder, Seizures
RS867666521 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS867677414 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS867679278 GABRB3 Health Risk Pathogenic Developmental and epileptic encephalopathy, 43
RS867694014 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS867701145 ADGRV1 Health Risk Pathogenic —
RS867707366 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS867715686 WDR35 Health Risk Pathogenic Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS867718675 COL4A5 Health Risk Likely pathogenic —
RS867723941 NDUFS8 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 2
RS867725248 TP53 Health Risk Likely pathogenic Ovarian neoplasm, Ovarian neoplasm
RS867732105 DNMT3B Health Risk Pathogenic Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS867732475 ZNF292 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 64
RS867732907 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy
RS867740591 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS867742191 PKD1L1 Health Risk Likely pathogenic Heterotaxy, visceral
RS867750505 PNP Health Risk Pathogenic Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
RS867751958 TYR Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS867760244 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS867772426 IQCB1 Health Risk Pathogenic Nephronophthisis, Senior-Loken syndrome 5
RS867776788 LIFR Health Risk Pathogenic —
RS867777631 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS867783098 CUL4B Health Risk Pathogenic —
RS867786904 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS867787320 TYMP Health Risk Pathogenic —
RS867795975 NPAT Health Risk Conflicting classifications of pathogenicity —
RS867798254 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, DYNC2H1-related disorder
RS867798393 DHH Health Risk Likely pathogenic 46, XY sex reversal 7
RS867799325 COL2A1 Health Risk Pathogenic COL2A1-related disorder, Stickler syndrome type 1
RS867806350 GLDN Health Risk Likely pathogenic Polyhydramnios, Multiple joint contractures
RS867808948 FLNC Health Risk Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS867810468 TECTA Health Risk Pathogenic —
RS867811009 SLC19A2 Health Risk Pathogenic/Likely pathogenic Megaloblastic anemia, thiamine-responsive
RS867811322 COL4A3 Health Risk Likely pathogenic —
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