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
RS1172557603 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS117256383 GPHN Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Hyperekplexia 1
RS1172581672 NBEAL2 Health Risk Pathogenic Gray platelet syndrome, Gray platelet syndrome
RS1172586020 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1172609046 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1172616375 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, SMARCAL1-related disorder
RS1172624671 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1172628170 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS1172643225 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1172664527 FERMT1 Health Risk Likely pathogenic —
RS1172673857 RHO Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1172676832 ATAD3A Health Risk Likely pathogenic Harel-Yoon syndrome, Harel-Yoon syndrome
RS1172677213 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS117269384 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS1172703594 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS1172710952 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1172714485 OTOF Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS1172733048 IMPG2 Health Risk Pathogenic Retinitis pigmentosa 56, Retinitis pigmentosa 56
RS117273916 TRPC6 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 2, Inborn genetic diseases
RS1172742481 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1172744855 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Tumor predisposition syndrome 2
RS1172760455 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1172761444 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1172775558 GORAB Health Risk Pathogenic —
RS1172785743 C5 Health Risk Pathogenic —
RS1172794619 DVL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1172797322 SPTA1 Health Risk Pathogenic —
RS1172818341 GBA2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1172820756 SPRED1 Health Risk Pathogenic/Likely pathogenic Legius syndrome, Legius syndrome
RS117283748 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1172837844 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS1172840777 ERCC2 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, Trichothiodystrophy 1
RS1172857937 IFT140 Health Risk Pathogenic/Likely pathogenic IFT140-related disorder, Saldino-Mainzer syndrome
RS1172865474 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1172866556 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS1172866708 ACTB Health Risk Conflicting classifications of pathogenicity Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS117287351 NLRP3 Health Risk Conflicting classifications of pathogenicity Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological
RS1172885188 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1172887273 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1172901266 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1172912595 SPTB Health Risk Likely pathogenic —
RS1172932679 CLCN7 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS1172956542 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS117297079 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1172971002 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1172972101 COLQ Health Risk Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS1172993204 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1172997135 DEAF1 Health Risk Likely pathogenic —
RS1173000590 CYP17A1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS1173011770 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS1173031118 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS1173036683 GRIA1 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 76
RS1173045461 ERCC8 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 1, Cockayne syndrome type 1
RS1173061992 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1173063527 PLPBP Health Risk Conflicting classifications of pathogenicity —
RS117307093 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS1173076751 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic adenocarcinoma, Pancreatic adenocarcinoma
RS1173098029 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1173118612 CHD3 Health Risk Pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS1173121367 SDHAF2 Health Risk Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1173134997 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1173142007 COQ6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS117314762 CFB Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with B factor anomaly
RS117315126 DENND5A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1173155015 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS117315845 OTOG Health Risk Conflicting classifications of pathogenicity Meniere disease, Meniere disease
RS117316812 ATP2C1 Health Risk Conflicting classifications of pathogenicity ATP2C1-related disorder, ATP2C1-related disorder
RS1173171051 PEX7 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS1173171736 CNGB1 Health Risk Pathogenic —
RS1173172739 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Inborn genetic diseases
RS117317626 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS1173183119 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1173183268 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS1173188736 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1173194734 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS117320408 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Inborn genetic diseases
RS1173242313 HSPB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Inborn genetic diseases
RS1173244456 DUOX2 Health Risk Pathogenic —
RS1173244523 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS1173254670 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1173256548 ALPK3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS117326462 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS117329700 EXT2 Health Risk Likely pathogenic Exostoses, multiple
RS1173297358 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1173305253 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1173312923 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1173328630 ADGRV1 Health Risk Pathogenic —
RS1173330253 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1173366565 NTHL1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS117336941 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4
RS117337677 VANGL1 Health Risk Conflicting classifications of pathogenicity Sacral defect with anterior meningocele, Neural tube defect
RS1173387237 NAF1 Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS1173430388 FKRP Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS117345850 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1173459626 LTBP2 Health Risk Likely pathogenic —
RS1173459869 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS117346210 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS117346988 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype
RS1173472655 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS117347582 UBR1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
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