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
RS1036530132 CEP250 Health Risk Conflicting classifications of pathogenicity —
RS1036598529 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1036618109 MKS1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1036643774 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1036650716 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS1036667471 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS1036693027 RGS9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1036733598 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS1036772752 LZTR1 Health Risk Likely pathogenic LZTR1-related schwannomatosis, Cardiovascular phenotype
RS1036773401 MYO3A Health Risk Pathogenic —
RS1036812157 CEP290 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Meckel-Gruber syndrome
RS1036816659 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS1036870835 BRCA2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D1, Breast-ovarian cancer
RS1036892634 PEX11B Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 14B, Peroxisome biogenesis disorder 14B
RS1036897594 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1036899554 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS1036934148 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1037030970 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS1037047731 ITGB3 Health Risk Conflicting classifications of pathogenicity Glanzmann thrombasthenia 2, Glanzmann thrombasthenia 2
RS1037051745 TOGARAM1 Health Risk Likely pathogenic Joubert syndrome 37, Joubert syndrome 37
RS1037057182 FBXO11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1037067658 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1037082089 C9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1037084691 WT1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 4
RS1037086962 WDR87 Health Risk Conflicting classifications of pathogenicity —
RS1037134217 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1037177330 MAK Health Risk Pathogenic —
RS1037182844 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS1037207765 UNC119 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS1037212969 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1037222479 C9 Health Risk Likely pathogenic —
RS1037223207 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1037236860 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS1037280105 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1037293795 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1037303884 SRP72 Health Risk Conflicting classifications of pathogenicity —
RS1037323084 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, 6 conditions
RS1037325220 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS1037348200 UBE3B Health Risk Pathogenic/Likely pathogenic —
RS1037374579 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS1037388276 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1037400402 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS1037406858 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1037411448 RSPH1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1037430183 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, SLC12A3-related disorder
RS1037434723 IFT81 Health Risk Pathogenic —
RS1037451392 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS1037467160 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1037469343 CSF1R Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1037506659 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1037514591 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS1037521613 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1037528846 GCM2 Health Risk Pathogenic —
RS1037540075 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1037569177 CDKL5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 2
RS1037576854 SPTB Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS1037585739 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS1037592848 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1037619437 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1037626168 SHANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1037643863 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1037664603 BICRA Health Risk Conflicting classifications of pathogenicity —
RS1037706456 PRF1 Health Risk Pathogenic/Likely pathogenic PRF1-related disorder, Familial hemophagocytic lymphohistiocytosis 2
RS1037732490 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS1037746738 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1037783253 COL13A1 Health Risk Likely pathogenic —
RS1037828930 INTU Health Risk Likely pathogenic Short-rib thoracic dysplasia 20 with polydactyly, Short rib-polydactyly syndrome
RS1037963003 CNGA1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1037991711 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1038021317 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS1038026978 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS1038048880 BRAF Health Risk Likely pathogenic RASopathy, RASopathy
RS1038099508 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PALB2-related cancer predisposition
RS1038102194 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS1038114901 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1038132485 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1038146319 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1038164521 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1038213947 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS1038244014 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1038269557 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1038271217 SON Health Risk Conflicting classifications of pathogenicity ZTTK syndrome, ZTTK syndrome
RS1038281307 NIN Health Risk Conflicting classifications of pathogenicity —
RS1038285646 MYSM1 Health Risk Pathogenic —
RS1038321056 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1038323136 PGAP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Intellectual disability
RS1038324354 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS1038329001 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS1038334022 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS1038334168 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS1038386076 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1038392991 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 2
RS1038411462 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1038415538 ITGB4 Health Risk Pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS1038499768 SI Health Risk Pathogenic/Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1038582488 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, ATP7B-related disorder
RS1038585075 STRC Health Risk Likely pathogenic STRC-related disorder, STRC-related disorder
RS1038607014 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1038658420 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS1038673402 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Nephrolithiasis/nephrocalcinosis
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