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
RS1368248226 LORICRIN Health Risk Conflicting classifications of pathogenicity —
RS1368275632 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS1368294758 ODAD3 Health Risk Pathogenic Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
RS1368296717 CASP8 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS1368307429 ACY1 Health Risk Likely pathogenic Aminoacylase 1 deficiency, Aminoacylase 1 deficiency
RS1368316485 SLC38A3 Health Risk Pathogenic Developmental and epileptic encephalopathy 102, Developmental and epileptic encephalopathy 102
RS1368322558 ESCO2 Health Risk Pathogenic/Likely pathogenic Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome
RS1368374192 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
RS1368387219 ZNF469 Health Risk Pathogenic/Likely pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS1368408 SCGB3A2 Health Risk risk factor Inherited susceptibility to asthma, Inherited susceptibility to asthma
RS1368412801 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1368414810 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1368439403 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1368444664 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1368453406 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS1368457771 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1368457816 AHDC1 Health Risk Conflicting classifications of pathogenicity —
RS1368473544 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1368494641 AUTS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1368497638 ZNF469 Health Risk Pathogenic —
RS1368507241 DES Health Risk Likely pathogenic Cardiomyopathy, Desmin-related myofibrillar myopathy
RS1368508052 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa
RS1368527802 LOXHD1 Health Risk Pathogenic —
RS1368543726 ANO10 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS1368565489 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1368571528 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS1368572 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1368576380 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1368584894 LRP2 Health Risk Pathogenic —
RS1368588434 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1368616115 GHRHR Health Risk Pathogenic Pituitary hormone deficiency, Pituitary hormone deficiency
RS1368625580 PKD1L1 Health Risk Pathogenic —
RS1368647604 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS1368661753 ABCC8 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS1368668141 PKD1L1 Health Risk Likely pathogenic Situs inversus, Situs inversus
RS1368682729 PAX1 Health Risk Conflicting classifications of pathogenicity Otofaciocervical syndrome 2, Otofaciocervical syndrome 2
RS1368720035 SLC19A2 Health Risk Pathogenic Megaloblastic anemia, thiamine-responsive
RS1368727960 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS1368733646 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS1368733883 GUCY1A1 Health Risk Pathogenic Moyamoya disease with early-onset achalasia, Moyamoya disease with early-onset achalasia
RS1368752573 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1368757896 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1368764108 CCDC22 Health Risk Conflicting classifications of pathogenicity —
RS1368779496 DNMT3B Health Risk Pathogenic/Likely pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS1368780488 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS1368784894 USH2A Health Risk Pathogenic —
RS1368796043 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1368806849 CYP4F22 Health Risk Conflicting classifications of pathogenicity —
RS1368860049 PNP Health Risk Likely pathogenic Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
RS1368861313 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1368882599 GDF5 Health Risk Pathogenic —
RS1368897658 PRDX3 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 32
RS1368909419 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1368916345 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1368926188 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Ovarian cancer
RS1368938675 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS1368969207 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1368983693 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS1368997812 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1369012080 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1369020144 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1369023278 CDH23 Health Risk Likely pathogenic CDH23-related disorder, CDH23-related disorder
RS1369026474 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1369028200 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1369055141 HLA-B Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS1369065305 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS1369076411 CEP250 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 2, Cone-rod dystrophy and hearing loss 2
RS1369097739 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1369099437 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS1369118661 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1369125082 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1369125529 IL7R Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency disease, Immunodeficiency 104
RS1369134650 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1369163428 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS1369175943 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1369181601 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1369201943 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1369220541 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS1369239753 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1369253342 KNG1 Health Risk Pathogenic Angioedema, hereditary
RS1369256964 GNPAT Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS1369305726 HSD17B4 Health Risk Likely pathogenic Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency
RS1369308468 AP3B2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 48
RS1369313123 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS1369327940 ASAH1 Health Risk Pathogenic —
RS1369349270 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1369360268 RAB3GAP2 Health Risk Likely pathogenic Warburg micro syndrome 2, Martsolf syndrome
RS1369374541 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1369399401 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1369404945 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, SCN1A-related disorder
RS1369414978 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinal dystrophy
RS1369420640 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1369425792 MTTP Health Risk Pathogenic/Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1369428503 LAMB1 Health Risk Pathogenic —
RS1369428850 COL7A1 Health Risk Pathogenic —
RS1369440486 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 3
RS1369454759 MMP2 Health Risk Pathogenic Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis
RS1369460201 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1369462778 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1369466541 PHIP Health Risk Conflicting classifications of pathogenicity —
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