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
RS121434594 RAF1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome 5, Primary familial hypertrophic cardiomyopathy
RS121434595 NRAS Health Risk Likely pathogenic Carcinoma of colon, Large congenital melanocytic nevus
RS121434596 NRAS Health Risk Likely pathogenic Juvenile myelomonocytic leukemia, Noonan syndrome 6
RS121434597 PTH1R Health Risk Pathogenic Metaphyseal chondrodysplasia, Jansen type
RS121434598 PTH1R Health Risk Pathogenic Metaphyseal chondrodysplasia, Jansen type
RS121434599 PTH1R Health Risk Pathogenic Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia
RS121434600 PTH1R Health Risk Pathogenic Metaphyseal chondrodysplasia, Jansen type
RS121434602 PTH1R Health Risk Pathogenic Metaphyseal chondrodysplasia, Jansen type
RS121434603 PTH1R Health Risk Pathogenic Eiken syndrome, Eiken syndrome
RS121434604 PTH1R Health Risk Pathogenic Chondrodysplasia Blomstrand type, Chondrodysplasia Blomstrand type
RS121434605 PTH1R Health Risk Pathogenic Primary failure of tooth eruption, Primary failure of tooth eruption
RS121434608 GDI1 Health Risk Pathogenic Intellectual disability, X-linked 41
RS121434609 GDI1 Health Risk Pathogenic Intellectual disability, X-linked 41
RS121434610 SMS Health Risk Pathogenic Syndromic X-linked intellectual disability Snyder type, Inborn genetic diseases
RS121434611 PAK3 Health Risk Pathogenic Intellectual disability, X-linked 30
RS121434612 PAK3 Health Risk Pathogenic Intellectual disability, X-linked 30
RS121434613 PAK3 Health Risk Pathogenic Intellectual disability, X-linked 30
RS121434614 PAK3 Health Risk Pathogenic Intellectual disability, X-linked 30
RS121434615 CUL4B Health Risk Pathogenic X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
RS121434616 CUL4B Health Risk Pathogenic X-linked intellectual disability Cabezas type, Global developmental delay
RS121434618 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS121434619 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS121434621 OPN1LW Health Risk Pathogenic Cone monochromatism, Protan defect
RS121434622 FMR1 Health Risk Pathogenic Fragile X syndrome, Fragile X syndrome
RS121434623 PTPN12 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS121434624 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS121434625 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS121434626 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, CREBBP-related disorder
RS121434629 PMS2 Health Risk Pathogenic/Likely pathogenic Mismatch repair cancer syndrome 1, Lynch syndrome 4
RS121434630 PMS2 Health Risk Pathogenic Mismatch repair cancer syndrome 4, Mismatch repair cancer syndrome 4
RS121434631 GUCA1A;GUCA1ANB-GUCA1A Health Risk Pathogenic Retinal dystrophy, Cone-rod dystrophy 14
RS121434632 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS121434633 NTRK2 Health Risk Pathogenic Obesity, hyperphagia
RS121434634 PLA2G4A Health Risk Pathogenic Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
RS121434635 PLA2G4A Health Risk Pathogenic Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
RS121434636 AUH Health Risk Pathogenic 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS121434637 ETV6 Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS121434638 TNNT3 Health Risk Pathogenic/Likely pathogenic Arthrogryposis, distal
RS121434639 DDB2 Health Risk Pathogenic Xeroderma pigmentosum, group E
RS121434640 DDB2 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group E
RS121434641 DDB2 Health Risk Pathogenic Xeroderma pigmentosum, group E
RS121434642 DDB2 Health Risk Pathogenic Xeroderma pigmentosum, group E
RS121434643 GJA8 Health Risk Pathogenic/Likely pathogenic Cataract 1 multiple types, Cataract 1 multiple types
RS1214399996 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1214424848 FLG Health Risk Pathogenic Dermatitis, atopic
RS1214440741 DGKE Health Risk Pathogenic Immunoglobulin-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated membranoproliferative glomerulonephritis
RS1214448436 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1214449764 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1214453791 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1214465435 PROP1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS1214483973 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS1214485253 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS1214495121 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1214505775 MYO5B Health Risk Pathogenic —
RS1214541502 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1214542902 ACADSB Health Risk Pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS1214597671 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS1214621343 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1214623286 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS1214626558 IL10RA Health Risk Pathogenic Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS1214630241 GPHN Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS1214642702 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1214646363 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1214646426 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS1214659869 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1214660308 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1214672768 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS12146878 MYBPC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1214719967 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1214723183 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS1214757167 ALS2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 2, juvenile
RS1214763097 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1214763792 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1214781989 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS1214801816 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1214812785 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1214818871 LARS2 Health Risk Pathogenic/Likely pathogenic —
RS1214822130 MTMR2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1
RS1214837315 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS1214848359 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1214866139 GALK1 Health Risk Conflicting classifications of pathogenicity Deficiency of galactokinase, Deficiency of galactokinase
RS1214876593 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1214897554 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Bardet-Biedl syndrome 13
RS1214903860 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1214951193 MYO7A Health Risk Pathogenic —
RS1214956593 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS1214965807 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1214970789 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Inborn genetic diseases
RS1214971073 PEX12 Health Risk Likely pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS1214977180 CNTNAP4 Health Risk Conflicting classifications of pathogenicity CNTNAP4-related disorder, CNTNAP4-related disorder
RS1214978129 TYMP Health Risk Pathogenic —
RS1214978641 ZBTB24 Health Risk Likely pathogenic —
RS1214983921 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS1214987088 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1214999277 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1215010372 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS1215015585 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1215020674 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1215026981 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1215030552 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
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