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
RS1051067702 PGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 42
RS1051072287 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1051081383 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1051138932 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1051194508 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1051234664 CPLANE1 Health Risk Pathogenic/Likely pathogenic Orofaciodigital syndrome type 6, Joubert syndrome 17
RS1051249273 TFR2 Health Risk Pathogenic Hemochromatosis type 3, Hereditary hemochromatosis
RS1051321465 RAD21 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 4, Inborn genetic diseases
RS1051352713 COG7 Health Risk Pathogenic COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS1051365488 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1051388148 OTOG Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS1051437969 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1051452474 OTOG Health Risk Pathogenic —
RS1051473344 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS1051476261 EGFR Health Risk Conflicting classifications of pathogenicity Hereditary cancer, EGFR-related lung cancer
RS1051488396 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS1051497484 IFT81 Health Risk Pathogenic —
RS1051502900 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1051519 HADH Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS1051519244 CTSF Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13
RS1051546563 CACNA1G Health Risk Likely pathogenic Spastic ataxia, Spastic ataxia
RS1051564593 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1051571820 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease
RS1051579797 IMPG1 Health Risk Conflicting classifications of pathogenicity Benign concentric annular macular dystrophy, Retinitis pigmentosa
RS1051597475 BLTP1 Health Risk Likely pathogenic Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS1051619342 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1051629865 LOXHD1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS1051639339 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1051646314 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1051649561 CSDE1 Health Risk Pathogenic —
RS1051651433 ASCC3 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 81
RS1051653507 SIX1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3
RS1051679985 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS1051725707 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1051725799 LZTR1 Health Risk Conflicting classifications of pathogenicity LZTR1-related schwannomatosis, Cardiovascular phenotype
RS1051753046 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1051758 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1051798261 CAPN3 Health Risk Pathogenic Muscular dystrophy, limb-girdle
RS1051829008 TP63 Health Risk Pathogenic Premature ovarian insufficiency, Premature ovarian failure 21
RS1051836531 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1051861187 ABCB4 Health Risk Likely pathogenic Low phospholipid associated cholelithiasis, ABCB4-Related Intrahepatic Cholestasis
RS1051875027 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1051887 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4
RS1051892430 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1051900223 FKRP Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS1051916652 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS10-related disorder
RS1051926 PDE6C Health Risk Conflicting classifications of pathogenicity Achromatopsia, Cone dystrophy 4
RS1051944154 CEP250 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 2, Cone-rod dystrophy and hearing loss 2
RS1051952947 AUTS2 Health Risk Conflicting classifications of pathogenicity See cases, AUTS2-related disorder
RS1051986248 INS Health Risk Conflicting classifications of pathogenicity Neonatal insulin-dependent diabetes mellitus, Neonatal insulin-dependent diabetes mellitus
RS1052000080 FLNC Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, FLNC-related disorder
RS1052006472 TGFBI Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1052029 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 45, Retinitis pigmentosa
RS1052030 MYO7A Health Risk Pathogenic Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS1052044702 FANCG Health Risk Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS1052050835 ARIH1 Health Risk association Aortic aneurysm, Aortic aneurysm
RS10520699 PRC1 Health Risk association Breast carcinoma, Breast carcinoma
RS1052071927 NKX2-1;SFTA3 Health Risk Pathogenic —
RS1052078370 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1052106103 CAV3 Health Risk Conflicting classifications of pathogenicity Caveolinopathy, Caveolinopathy
RS1052149878 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS1052163062 GABRD Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS1052176 PKLR Health Risk Conflicting classifications of pathogenicity PKLR-related disorder, PKLR-related disorder
RS1052194170 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1052196774 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS1052206430 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1052251029 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1052304545 SLC20A2 Health Risk Pathogenic SLC20A2-related disorder, Idiopathic basal ganglia calcification 1
RS1052367854 SLC20A2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1052375050 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome, Usher syndrome
RS1052382672 PTPN11 Health Risk Likely pathogenic RASopathy, Noonan syndrome and Noonan-related syndrome
RS1052409595 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1052410160 ERLIN2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1052441923 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1052448547 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1052471595 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1052480459 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1052485948 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1052501136 TTN Health Risk Conflicting classifications of pathogenicity —
RS1052505781 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS1052533574 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS1052557621 HNF1B Health Risk Likely risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1052593047 TYMP Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1052598974 ABCA3 Health Risk Pathogenic Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS1052613908 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS1052640717 HCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1052655986 PEX2 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 5A (Zellweger)
RS1052676207 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS1052742630 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1052745208 ESPN Health Risk Conflicting classifications of pathogenicity ESPN-related disorder, Inborn genetic diseases
RS1052769515 SLC16A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS1052814686 ADGRV1 Health Risk Pathogenic —
RS1052826149 FRRS1L Health Risk Pathogenic Developmental and epileptic encephalopathy, 37
RS1052849519 TRIO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1052867 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, INVS-related disorder
RS1052882544 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1052900893 TYR Health Risk Pathogenic —
RS1052954321 ALPK1 Health Risk Pathogenic Retinal dystrophy, optic nerve edema
RS1052956823 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1052957698 SETD5 Health Risk Conflicting classifications of pathogenicity —
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