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
RS1327793505 NCF4 Health Risk Pathogenic Granulomatous disease, chronic
RS1327795344 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1327818531 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1327824700 ERCC6L2 Health Risk Conflicting classifications of pathogenicity —
RS1327851196 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHD7-related disorder
RS1327871725 THAP1 Health Risk Conflicting classifications of pathogenicity Torsion dystonia 6, Torsion dystonia 6
RS1327875225 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1327876395 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1327892944 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1327898921 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1327932138 KDM6B;LOC121587574 Health Risk Pathogenic —
RS1327946446 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1327959008 CTNS Health Risk Likely pathogenic —
RS1327996297 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS1328001825 PROM1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1328009205 MYO7A Health Risk Likely pathogenic —
RS1328017393 PDE6C Health Risk Pathogenic/Likely pathogenic PDE6C-related disorder, PDE6C-related disorder
RS1328022633 COL7A1 Health Risk Likely pathogenic —
RS1328030621 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1328033713 KIF1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 9
RS1328046615 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1328046881 LZTR1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1328051341 COL27A1 Health Risk Pathogenic/Likely pathogenic Steel syndrome, Steel syndrome
RS1328053279 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1328059662 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1328062930 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1328072266 ABCC8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary hyperinsulinism
RS1328082539 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS1328116832 DCTN1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis
RS1328127456 DGAT1 Health Risk Pathogenic —
RS1328159128 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1328242717 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1328261486 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1328280874 ALG12 Health Risk Likely pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS1328291159 ARX Health Risk Pathogenic/Likely pathogenic X-linked lissencephaly with abnormal genitalia, Intellectual disability
RS1328291937 SLC45A2 Health Risk Pathogenic —
RS1328292775 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS1328294721 KCNMA1 Health Risk Pathogenic Cerebellar atrophy, developmental delay
RS1328296506 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS1328296968 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1328301317 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1328306876 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1328318082 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1328320990 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1328357943 CFH Health Risk Pathogenic Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS1328362747 DIS3L2 Health Risk Pathogenic/Likely pathogenic Perlman syndrome, DIS3L2-related disorder
RS1328384458 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae
RS1328389180 SDHC Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS1328407908 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1328440878 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS1328461856 TRIOBP Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS1328469024 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1328471853 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 30
RS1328489156 USH2A Health Risk Likely pathogenic —
RS1328493860 MOCS2 Health Risk Pathogenic —
RS1328571912 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS1328577241 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1328584680 MMAA Health Risk Conflicting classifications of pathogenicity Microcephaly, Severe global developmental delay
RS1328593149 NSDHL Health Risk Conflicting classifications of pathogenicity —
RS1328608014 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1328610836 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS1328615024 RP1 Health Risk Pathogenic —
RS1328617979 SPPL2A Health Risk Pathogenic Immunodeficiency 86, Immunodeficiency 86
RS1328647913 TANGO2 Health Risk Conflicting classifications of pathogenicity —
RS1328651461 SLC52A2 Health Risk Pathogenic/Likely pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS1328655695 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS1328663348 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1328705140 NOG Health Risk Pathogenic/Likely pathogenic Brachydactyly type B2, Brachydactyly type B2
RS1328742081 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1328767121 RAB28 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1328770706 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS1328776664 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1328780843 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1328784046 NOTCH3 Health Risk Likely pathogenic NOTCH3-related disorder, Auditory neuropathy
RS1328820332 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1328836511 NPHP4 Health Risk Pathogenic —
RS1328841882 USH2A Health Risk Pathogenic —
RS1328857189 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS1328879943 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1328884551 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS1328890188 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1328890259 OPTN Health Risk Pathogenic Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma
RS1328915368 PARN Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 6
RS1328924162 DUOX2 Health Risk Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1328949478 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, TBK1-related disorder
RS1328956233 COL9A2 Health Risk Conflicting classifications of pathogenicity —
RS1328965570 RELN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Norman-Roberts syndrome
RS1328971667 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1328983959 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1328985852 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Malignant tumor of breast
RS1328991757 TTN Health Risk Conflicting classifications of pathogenicity Tip-toe gait, Tip-toe gait
RS1328994773 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1329006994 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1329009397 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS1329022055 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1329022268 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1329030528 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS1329061274 CEL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1329063851 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS1329066633 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
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