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
RS143326262 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS143326637 OTOA Health Risk Conflicting classifications of pathogenicity Melanoma, Melanoma
RS143326964 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS143327210 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa
RS1433280953 ERI1 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Guo-Campeau type
RS143328343 ALAS2 Health Risk Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1, Inborn genetic diseases
RS143329068 MEN1 Health Risk Conflicting classifications of pathogenicity Hyperparathyroidism, Multiple endocrine neoplasia
RS143329328 TECRL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1433293836 BBS5 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 5
RS1433294475 CC2D2A Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS143330463 IL2RB Health Risk Conflicting classifications of pathogenicity IL2RB-related disorder, IL2RB-related disorder
RS1433306229 CREB3L3 Health Risk Pathogenic —
RS1433307898 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS143331003 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS143331971 MMP13 Health Risk Conflicting classifications of pathogenicity —
RS1433323183 COQ8A Health Risk Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS143333036 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Congenital factor V deficiency
RS143333246 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related disorder
RS143335921 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1433367660 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS143336823 TNS2 Health Risk Conflicting classifications of pathogenicity —
RS143337663 FLRT1 Health Risk Conflicting classifications of pathogenicity Peripheral neuropathy, FLRT1-related disorder
RS143337739 NDUFS8 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 2
RS143337771 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS143338050 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS1433384279 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS143339036 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiac arrhythmia
RS1433396777 HSPB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Inborn genetic diseases
RS143340522 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS143340609 FXN Health Risk Conflicting classifications of pathogenicity —
RS143341041 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS143341174 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Clear cell carcinoma of kidney
RS143341423 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS143341678 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS143341876 FGFR1 Health Risk Conflicting classifications of pathogenicity Craniosynostosis syndrome, Trigonocephaly 1
RS1433422316 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS1433422530 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS1433428588 PLOD1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS143343083 GJB2 Health Risk Pathogenic Hearing impairment, Autosomal recessive nonsyndromic hearing loss 1A
RS1433432612 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS143343508 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 7 with or without polydactyly
RS143343647 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Muscular dystrophy
RS143344549 USH2A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Usher syndrome type 2A
RS143344944 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS143344989 CABP4 Health Risk Conflicting classifications of pathogenicity Cone-rod synaptic disorder, congenital nonprogressive
RS143345726 MYOZ2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1433458409 ATP2B1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Intellectual developmental disorder
RS1433459701 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS143346257 SKIC3 Health Risk Conflicting classifications of pathogenicity SKIC3-related disorder, SKIC3-related disorder
RS143346402 ABCC9 Health Risk Conflicting classifications of pathogenicity Hypertrichotic osteochondrodysplasia Cantu type, Cardiovascular phenotype
RS1433471292 SURF1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Leigh syndrome
RS143347563 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS143348838 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, IVD-related disorder
RS1433489753 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS1433492944 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS143349452 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1433496791 PABPN1 Health Risk Conflicting classifications of pathogenicity Oculopharyngeal muscular dystrophy 1, Oculopharyngeal muscular dystrophy 1
RS1433497291 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS143350315 PRPF3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, PRPF3-related disorder
RS1433509643 CPLANE1 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS143351192 ZFHX3 Health Risk Conflicting classifications of pathogenicity ZFHX3-related disorder, Melanoma
RS143351214 ERMARD Health Risk Conflicting classifications of pathogenicity —
RS1433513056 NUP133 Health Risk Pathogenic Galloway-Mowat syndrome 8, Galloway-Mowat syndrome 8
RS1433518605 CRB1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Leber congenital amaurosis 8
RS143352280 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143352618 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS143353451 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1433540169 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS143354105 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1433543827 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS143354476 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS1433546528 IMPG1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS143355224 DYSF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS143355299 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS143356203 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS143356409 DISP1 Health Risk Conflicting classifications of pathogenicity —
RS1433564897 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS143356896 ERCC8 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 1, Cockayne syndrome type 1
RS143357437 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1433582057 ACADS Health Risk Pathogenic/Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS143358506 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, ALPL-related disorder
RS143359890 ADAMTS18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143360102 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS1433607345 FH Health Risk Likely pathogenic —
RS1433612344 DYSF Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1433614577 AKR1D1 Health Risk Pathogenic/Likely pathogenic Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
RS143361850 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS143362532 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS143362935 ACP5 Health Risk Conflicting classifications of pathogenicity Spondyloenchondrodysplasia with immune dysregulation, Inborn genetic diseases
RS143365075 WDR13 Health Risk Conflicting classifications of pathogenicity —
RS1433656857 F9 Health Risk Pathogenic Thrombophilia, X-linked
RS1433664240 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS143366614 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with I factor anomaly, CFI-related disorder
RS143366878 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS143367518 ERCC8 Health Risk Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome
RS1433680488 SERPING1 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 1, Hereditary angioedema type 1
RS143368111 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Van Maldergem syndrome 1
RS143368521 MAPKBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MAPKBP1-related disorder
RS143368674 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Tibial muscular dystrophy
RS143370284 ZEB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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