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
RS140773345 MCM8 Health Risk Pathogenic Premature ovarian failure 10, Premature ovarian failure 10
RS140773453 WFS1 Health Risk Uncertain significance/Uncertain risk allele Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS1407740477 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS1407742055 CDKN1A Health Risk Pathogenic Malignant tumor of urinary bladder, Neoplasm
RS1407754407 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS1407756066 PC Health Risk Pathogenic Global developmental delay, Global developmental delay
RS140776586 NDUFA10 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS1407775325 BCL11B Health Risk Conflicting classifications of pathogenicity Immunodeficiency 49, Intellectual developmental disorder with speech delay
RS140777637 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS140777921 SLC25A25 Health Risk Pathogenic Nephrolithiasis, Nephrolithiasis
RS140778310 TSPEAR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140778319 FASTKD2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS1407786310 BRCA1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS140778634 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS140778669 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS1407794756 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS140780067 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS1407805768 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Chuvash polycythemia
RS140780704 KRT13 Health Risk Conflicting classifications of pathogenicity White sponge nevus 2, Inborn genetic diseases
RS140781106 ITGA3 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa, junctional 7
RS140781259 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1407813574 MCM3AP Health Risk Likely pathogenic —
RS140781535 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS140781824 TNFRSF13B Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS140781915 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS140782158 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS140782270 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS140782427 GDF6 Health Risk Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
RS1407825579 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS140782750 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS140783695 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS140785131 GPR101 Health Risk Conflicting classifications of pathogenicity GPR101-related disorder, GPR101-related disorder
RS140785340 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS140785361 G6PC3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Inborn genetic diseases
RS140785678 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1407858532 PPFIA3 Health Risk Likely pathogenic PPFIA3-related disorder, PPFIA3-related disorder
RS1407860889 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1407860955 USH2A Health Risk Pathogenic —
RS140786299 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS140786333 OAT Health Risk Conflicting classifications of pathogenicity Ornithine aminotransferase deficiency, Inborn genetic diseases
RS1407871103 PNPLA1 Health Risk Pathogenic Congenital ichthyosiform erythroderma, Congenital ichthyosiform erythroderma
RS140787216 STAT1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS140787739 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS1407880094 NUS1 Health Risk Pathogenic Intellectual disability, autosomal dominant 55
RS140788691 LHCGR Health Risk Conflicting classifications of pathogenicity Gonadotropin-independent familial sexual precocity, Leydig cell agenesis
RS1407889404 ABCC2 Health Risk Likely pathogenic —
RS140788943 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS140789717 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS140790266 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS140790665 HGF Health Risk Conflicting classifications of pathogenicity —
RS1407907917 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS140790797 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS140791062 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, Hereditary spastic paraplegia
RS140791274 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS140791666 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1407920390 QDPR Health Risk Pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS140792871 TG Health Risk Conflicting classifications of pathogenicity —
RS140793506 ADAMTS9 Health Risk Conflicting classifications of pathogenicity —
RS140794014 CCDC88A Health Risk Conflicting classifications of pathogenicity PEHO syndrome, PEHO syndrome
RS140794946 SLC2A2 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, SLC2A2-related disorder
RS1407955132 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1407969814 ANKH Health Risk Conflicting classifications of pathogenicity —
RS140797509 COL5A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Ehlers-Danlos syndrome
RS140799151 OAS1 Health Risk Conflicting classifications of pathogenicity —
RS1407995 DCT Health Risk association Age related macular degeneration 7, Age related macular degeneration 7
RS140799744 CFHR1 Health Risk Conflicting classifications of pathogenicity Chronic kidney disease, Hepatocellular carcinoma
RS1407999116 FANCC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia
RS140799936 TRPM4 Health Risk Conflicting classifications of pathogenicity TRPM4-related disorder, Cardiomyopathy
RS140800288 SKIC3 Health Risk Pathogenic/Likely pathogenic Inherited Immunodeficiency Diseases, Trichohepatoenteric syndrome 1
RS140801551 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Developmental delay
RS140802292 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS140803495 NRIP1 Health Risk Conflicting classifications of pathogenicity NRIP1-related disorder, NRIP1-related disorder
RS140804406 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1408044973 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS1408054045 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS1408057194 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS140806590 LMBR1 Health Risk Conflicting classifications of pathogenicity Polydactyly of a triphalangeal thumb, Polydactyly of a triphalangeal thumb
RS140806722 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS1408067328 MIPEP Health Risk Likely pathogenic Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
RS140806942 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS140807148 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS140807244 SMOC2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Ovarian serous cystadenocarcinoma
RS1408073039 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS140807822 DMP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS140808195 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS140808447 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases
RS140808549 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, AIPL1-related retinopathy
RS140808909 APOE Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alzheimer disease 2
RS140809078 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1408092115 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1408095438 CTSC Health Risk Pathogenic Papillon-Lefèvre syndrome, Periodontitis
RS1408096224 BRCA2 Health Risk Pathogenic Breast neoplasm, Hereditary breast ovarian cancer syndrome
RS1408098337 CSRP3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 12
RS140810408 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1408113895 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1408118210 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS140812286 BCS1L Health Risk Conflicting classifications of pathogenicity GRACILE syndrome, Pili torti-deafness syndrome
RS1408123846 ADAMTSL2 Health Risk Likely pathogenic Lethal short-limb skeletal dysplasia, Al Gazali type
RS140812463 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS140812535 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
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