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
RS1170838100 F9 Health Risk Pathogenic Thrombophilia, X-linked
RS1170841548 CYP24A1 Health Risk Pathogenic/Likely pathogenic Renal tubulopathies, Renal tubulopathies
RS1170844318 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS1170845795 LAMB2 Health Risk Pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS117084693 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1170858087 RMRP Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia 1, Metaphyseal chondrodysplasia
RS1170875285 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, Inborn genetic diseases
RS1170876773 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS117087989 TTC19 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS1170882286 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1170894634 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1170895261 GBA1 Health Risk Pathogenic Gaucher disease, 7 conditions
RS1170907347 AARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS1170910466 WFS1 Health Risk Likely pathogenic Diabetes mellitus, Diabetes mellitus
RS1170934513 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1170935238 PGM1 Health Risk Pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS1170939620 EPM2A Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy, Lafora disease
RS117094017 NLRC4 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS1170942980 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1170952773 PEPD Health Risk Pathogenic/Likely pathogenic Prolidase deficiency, Prolidase deficiency
RS1170957197 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1170971274 DDX41 Health Risk Pathogenic/Likely pathogenic DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS1170974058 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1170974293 LRBA Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS117097948 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Tibial muscular dystrophy
RS1170988281 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hereditary hemochromatosis
RS1170990391 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS1170991098 SHOX Health Risk Pathogenic —
RS1170997950 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1171005948 ABCB11 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS117100816 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS1171013095 LPIN1 Health Risk Pathogenic —
RS1171022283 ABCG5 Health Risk Pathogenic Sitosterolemia, Sitosterolemia
RS1171070752 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1171088713 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS117109271 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS1171095987 OTOF Health Risk Likely pathogenic —
RS1171103742 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1171109209 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy
RS1171110012 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1171115208 EEFSEC Health Risk Likely pathogenic Autosomal recessive non-syndromic intellectual disability, Autosomal recessive non-syndromic intellectual disability
RS117114021 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS1171150612 FREM2 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1171152008 STAR Health Risk Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS1171155255 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS1171160143 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1171167857 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS117116822 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS1171171393 TECRL Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 3, Catecholaminergic polymorphic ventricular tachycardia 3
RS1171179496 NPHP1 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS1171186208 GRXCR1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 25, Autosomal recessive nonsyndromic hearing loss 25
RS117119161 RET Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS1171191979 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS1171209104 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1171230055 SHANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS117123311 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Multiple epiphyseal dysplasia
RS1171235203 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1171241375 TG Health Risk Pathogenic —
RS1171241754 PDYN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1171264735 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 39
RS1171276645 NDUFS7 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 3
RS1171277553 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS117131028 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS117132825 ZNF335 Health Risk Conflicting classifications of pathogenicity ZNF335-related disorder, ZNF335-related disorder
RS1171337671 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1171341642 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS117134265 ROR2 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita
RS1171360627 CAD Health Risk Conflicting classifications of pathogenicity —
RS1171368715 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1171371205 EIF4A2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1171390403 SGK1 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS1171394901 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1171400724 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1171407156 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1171412241 NHLRC1 Health Risk Pathogenic Lafora disease, Lafora disease
RS1171413936 TTN Health Risk Likely pathogenic Cardiomyopathy, Dilated cardiomyopathy 1G
RS1171417339 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome, Usher syndrome type 1B
RS1171426785 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1171432546 MCPH1 Health Risk Pathogenic Autosomal recessive primary microcephaly, Autosomal recessive primary microcephaly
RS1171444727 SOX4 Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 10, Coffin-Siris syndrome 10
RS1171462240 MTMR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1
RS1171471843 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS1171478249 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS117148013 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS1171509531 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1171512070 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1171514864 MKKS Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome
RS1171520322 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS117152710 TNS2 Health Risk Conflicting classifications of pathogenicity TNS2-related disorder, TNS2-related disorder
RS1171544975 QDPR Health Risk Pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS1171545533 RPE65 Health Risk Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS1171546018 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1171554207 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1171568759 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder
RS1171578361 NPHP3 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1
RS1171582595 MECR Health Risk Pathogenic —
RS117159093 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13
RS1171604398 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS1171626324 TYR Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS1171640656 SLC26A3 Health Risk Pathogenic Congenital secretory diarrhea, chloride type
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