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
RS1243716539 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1243721108 COQ8A Health Risk Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS1243748540 DLL3 Health Risk Pathogenic —
RS1243753206 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS1243762658 TENM3 Health Risk Likely pathogenic Microphthalmia, isolated
RS1243776150 PNPT1 Health Risk Likely pathogenic —
RS1243779049 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1243845978 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS1243847782 MLH3 Health Risk Conflicting classifications of pathogenicity —
RS1243863645 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1243868138 KCNA2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32
RS1243886871 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1243898549 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1243918665 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS1243920034 ENPP1 Health Risk Conflicting classifications of pathogenicity —
RS1243923870 BLM Health Risk Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1243948503 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1243952083 ABCB11 Health Risk Likely pathogenic —
RS1243965664 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1243971835 ACAD9 Health Risk Pathogenic —
RS1243977956 GABRA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 78
RS1243985803 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1243997625 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS1243999036 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1244003380 CHM Health Risk Likely pathogenic Retinal dystrophy, Choroideremia
RS1244011928 ADGRV1 Health Risk Pathogenic —
RS1244017657 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1244029486 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1244049089 VPS41 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 29
RS1244049824 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1244056899 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1244058062 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS1244071473 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS1244074570 ERCC5 Health Risk Likely pathogenic Xeroderma pigmentosum, group G
RS1244082467 JPH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1244093431 TEX15 Health Risk Pathogenic Spermatogenic failure 25, Spermatogenic failure 25
RS1244097151 APRT Health Risk Likely pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1244103739 PIGO Health Risk Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1244119341 CPLANE1 Health Risk Likely pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS1244121412 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1244128314 OCA2 Health Risk Likely pathogenic —
RS1244139989 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS1244142295 DNHD1 Health Risk Likely pathogenic —
RS1244151760 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1244153418 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS1244155207 BSCL2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1244156082 SKIC2 Health Risk Likely pathogenic Trichohepatoenteric syndrome, Trichohepatoenteric syndrome
RS1244161898 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1244167364 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS1244170961 TTC21B Health Risk Likely pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS1244173581 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1244178555 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1244188050 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1244221685 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1244226820 TIMM50 Health Risk Likely pathogenic 3-methylglutaconic aciduria type 9, 3-methylglutaconic aciduria type 9
RS1244227519 VPS13A Health Risk Likely pathogenic —
RS1244240617 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1244241099 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1244255905 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1244264430 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Potassium-aggravated myotonia
RS1244267880 POLE Health Risk Conflicting classifications of pathogenicity —
RS1244284678 SOCS1 Health Risk Pathogenic AUTOINFLAMMATORY SYNDROME, FAMILIAL
RS1244303575 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1244303801 HCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1244307754 MKS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 13, Meckel syndrome
RS1244315984 WDR87 Health Risk Conflicting classifications of pathogenicity —
RS1244318419 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1244339215 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder
RS1244342890 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1244369953 LAMA3 Health Risk Pathogenic —
RS1244378437 USH1C Health Risk Pathogenic —
RS1244404381 GLB1 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-B
RS1244415676 GPR179 Health Risk Pathogenic —
RS1244436929 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS1244442256 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1244471687 PEX16 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1244476467 CPAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1244506651 FREM1 Health Risk Likely pathogenic —
RS1244507563 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1244511121 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS1244511644 NMNAT1 Health Risk Likely pathogenic —
RS1244531716 MSH6 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS1244537662 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1244562984 SETD1B Health Risk Pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS1244609956 NEMF Health Risk Likely pathogenic —
RS1244633595 MPV17 Health Risk Conflicting classifications of pathogenicity —
RS1244655820 NAGLU Health Risk Pathogenic/Likely pathogenic Sanfilippo syndrome, Mucopolysaccharidosis
RS1244656046 CPLANE1 Health Risk Likely pathogenic —
RS1244671706 BEST1 Health Risk Pathogenic —
RS1244688796 KCNE1 Health Risk Pathogenic Jervell and Lange-Nielsen syndrome 2, Long QT syndrome
RS1244691285 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1244718647 ARSG Health Risk Pathogenic Usher syndrome, type 4
RS1244721341 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia
RS1244721977 TTC8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 8
RS1244732832 STXBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Multiple congenital anomalies/dysmorphic syndrome
RS1244752544 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1244761864 LRP5 Health Risk Pathogenic Inborn genetic diseases, Retinal dystrophy
RS1244772203 USP7 Health Risk Likely pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS1244812690 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS1244822375 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
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