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
RS781461462 PARD3 Health Risk Pathogenic Neural tube defect, Neural tube defect
RS781462105 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS781462684 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS781462822 HSPD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 13, Spastic paraplegia
RS781463257 GRM6 Health Risk Pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS781464949 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS781466090 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781466698 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS781466938 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS781467053 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS781467355 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS781467490 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS781468003 PTDSS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781469274 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS781469363 KIFBP Health Risk Pathogenic/Likely pathogenic Goldberg-Shprintzen syndrome, KIFBP-related disorder
RS781469639 TRAPPC9 Health Risk Pathogenic Inborn genetic diseases, Intellectual disability
RS781469947 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS781470490 SI Health Risk Pathogenic Sucrase-isomaltase deficiency, SI-related disorder
RS781471173 OCA2 Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS781473515 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS781474200 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS781475201 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS781476014 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS781477512 TARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21
RS781477694 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS781478659 AQP2 Health Risk Pathogenic —
RS781479400 COL4A4 Health Risk Pathogenic/Likely pathogenic Alport syndrome, Alport syndrome
RS781479684 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS781479762 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS781479852 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS781479923 SLX4 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS781480218 APTX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781481050 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z
RS781481160 POLE Health Risk Conflicting classifications of pathogenicity —
RS781481819 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia, Inborn genetic diseases
RS781481868 ABCC2 Health Risk Likely pathogenic ABCC2-related disorder, Colon adenocarcinoma
RS781482454 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS781482552 SETD1A Health Risk Pathogenic Epilepsy, early-onset
RS781483110 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Isolated focal cortical dysplasia type II
RS781483544 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS781484164 VPS53 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E
RS781484283 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS781484971 RPS10 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia 9
RS781485593 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS781485753 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS781486255 SERPINI1 Health Risk Conflicting classifications of pathogenicity Familial encephalopathy with neuroserpin inclusion bodies, Familial encephalopathy with neuroserpin inclusion bodies
RS781486571 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS781488619 WDR62 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781488741 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, DiGeorge syndrome
RS781489846 CYP19A1 Health Risk Conflicting classifications of pathogenicity Aromatase deficiency, Aromatase deficiency
RS781490139 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Retinitis pigmentosa 88
RS781491004 ADCY5 Health Risk Likely pathogenic —
RS781491172 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Infantile cortical hyperostosis
RS781491387 TTC19 Health Risk Likely pathogenic —
RS781491435 DUOX2 Health Risk Likely pathogenic —
RS781491486 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS781492309 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS78149232 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS781492698 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Lynch syndrome 1
RS781493030 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS781493730 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS781494318 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS781496140 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS781496816 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS781497103 ADAMTSL4 Health Risk Pathogenic —
RS781497255 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781498366 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS781498456 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS781499078 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Inborn genetic diseases
RS781501004 MMUT Health Risk Pathogenic —
RS781502266 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS781504304 MYH2 Health Risk Likely pathogenic Childhood-onset autosomal recessive myopathy with external ophthalmoplegia, Myopathy
RS781505393 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS781505420 DDHD1 Health Risk Pathogenic Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28
RS781505573 P3H2 Health Risk Pathogenic —
RS781506018 PRKG2 Health Risk Pathogenic —
RS781506407 IRF6 Health Risk Pathogenic/Likely pathogenic Popliteal pterygium syndrome, Van der Woude syndrome
RS781507889 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS781507988 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781508063 ASPH Health Risk Pathogenic/Likely pathogenic Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome, Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
RS781508217 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Dilated cardiomyopathy 1G
RS781508757 IQCB1 Health Risk Pathogenic Nephronophthisis, Senior-Loken syndrome 5
RS781509375 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS781510666 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS781510670 SLC22A4 Health Risk Conflicting classifications of pathogenicity —
RS781510673 DCDC2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
RS781510986 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS781511110 GYS2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency, GYS2-related disorder
RS781512324 SOX4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781512523 CTSK Health Risk Pathogenic —
RS781513152 TPM2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS781513537 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
RS781514010 COL6A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 1A
RS781514536 EFNB1 Health Risk Pathogenic —
RS781515382 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS781515818 COQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781516548 SLC26A5 Health Risk Pathogenic —
RS781516934 PKHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PKHD1-related disorder
RS781517464 LIPI Health Risk Conflicting classifications of pathogenicity —
RS781518112 COQ8A Health Risk Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
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