SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS80159221 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS80163539 ASPH Health Risk Conflicting classifications of pathogenicity —
RS80164537 TRPC4 Health Risk Pathogenic Autism, susceptiblity to
RS80164898 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS80166001 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS80168454 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS80181772 ABCA12 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4B
RS80187739 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS80191629 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 11
RS80199741 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS80201355 PRPF3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, PRPF3-related disorder
RS80203202 HERC1 Health Risk Conflicting classifications of pathogenicity Macrocephaly, dysmorphic facies
RS80207011 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS80214209 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS80222298 GBA1 Health Risk Conflicting classifications of pathogenicity —
RS80224512 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS80224560 CFTR Health Risk Pathogenic Cystic fibrosis, Hereditary pancreatitis
RS80227512 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Susceptibility to mononeuropathy of the median nerve
RS80227749 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS80232004 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Aortic valve disease 2
RS80233027 PIK3R2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
RS80236571 RET Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS80239443 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS80256822 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Papillary renal cell carcinoma type 1
RS80258644 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS80258959 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS80265967 SCAF4;SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis 1
RS80266334 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS80267624 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS80272723 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS80277041 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS80277939 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS80282562 CFTR Health Risk Pathogenic Cystic fibrosis, ivacaftor response - Efficacy
RS8028305 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Congenital hypothyroidism
RS80293130 NRXN1 Health Risk Conflicting classifications of pathogenicity Chromosome 2p16.3 deletion syndrome, Pitt-Hopkins-like syndrome 2
RS80296256 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS80297647 PAH Health Risk Likely pathogenic Phenylketonuria, PAH-related disorder
RS80299691 LBR Health Risk Conflicting classifications of pathogenicity Greenberg dysplasia, Connective tissue disorder
RS80311498 SCNN1B Health Risk Likely pathogenic —
RS80315385 CACNA1C Health Risk Pathogenic Timothy syndrome, Congenital long QT syndrome
RS80326661 POMC Health Risk Conflicting classifications of pathogenicity Obesity, POMC-related disorder
RS80330850 INSR Health Risk Conflicting classifications of pathogenicity Leprechaunism syndrome, Rabson-Mendenhall syndrome
RS80337021 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS80338642 LYST Health Risk Pathogenic CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE
RS80338643 LYST Health Risk Pathogenic/Likely pathogenic CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE
RS80338644 LYST Health Risk Pathogenic CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE
RS80338645 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS80338646 LYST Health Risk Pathogenic CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE
RS80338647 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS80338649 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, CHEDIAK-HIGASHI SYNDROME
RS80338651 LYST Health Risk Pathogenic CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE
RS80338652 LYST Health Risk Pathogenic/Likely pathogenic CHEDIAK-HIGASHI SYNDROME, ADULT TYPE
RS80338655 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS80338658 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS80338660 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS80338664 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS80338667 LYST Health Risk Pathogenic CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE
RS80338668 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS80338669 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, LYST-related disorder
RS80338671 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IV, nonprogressive hepatic
RS80338672 GBE1 Health Risk Likely pathogenic Glycogen storage disease IV, classic hepatic
RS80338673 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IV, combined hepatic and myopathic
RS80338675 PRPS1 Health Risk Pathogenic Arts syndrome, Arts syndrome
RS80338677 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Inborn genetic diseases
RS80338678 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS80338679 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS80338680 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Inborn genetic diseases
RS80338681 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, MAN2B1-related disorder
RS80338682 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax
RS80338684 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS80338685 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Intellectual disability
RS80338686 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Inborn genetic diseases
RS80338688 SOX9 Health Risk Pathogenic CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, Camptomelic dysplasia
RS80338694 CDAN1 Health Risk Pathogenic/Likely pathogenic Anemia, congenital dyserythropoietic
RS80338696 CDAN1 Health Risk Pathogenic/Likely pathogenic Congenital dyserythropoietic anemia, type I
RS80338697 CDAN1 Health Risk Pathogenic/Likely pathogenic Congenital dyserythropoietic anemia, type I
RS80338699 CDAN1 Health Risk Pathogenic/Likely pathogenic Congenital dyserythropoietic anemia, type I
RS80338700 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, 6 conditions
RS80338701 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, Inborn genetic diseases
RS80338702 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS80338703 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, Congenital cerebellar hypoplasia
RS80338704 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS80338706 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, Inborn genetic diseases
RS80338707 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS80338708 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, See cases
RS80338709 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, Inborn genetic diseases
RS80338710 ARSL Health Risk Likely pathogenic X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1
RS80338711 ARSL Health Risk Conflicting classifications of pathogenicity X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1
RS80338714 ARSL Health Risk Conflicting classifications of pathogenicity X-linked chondrodysplasia punctata 1, See cases
RS80338715 SLC25A13 Health Risk Pathogenic/Likely pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency, Citrin deficiency
RS80338716 SLC25A13 Health Risk Pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency, Citrin deficiency
RS80338717 SLC25A13 Health Risk Pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia type II
RS80338718 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrullinemia
RS80338719 SLC25A13 Health Risk Pathogenic Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency
RS80338720 SLC25A13 Health Risk Pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency, Citrin deficiency
RS80338721 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrin deficiency, Citrullinemia type II
RS80338722 SLC25A13 Health Risk Pathogenic Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency
RS80338723 SLC25A13 Health Risk Pathogenic Citrullinemia type II, Citrin deficiency
RS80338724 SLC25A13 Health Risk Likely pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency, Citrin deficiency
RS80338725 SLC25A13 Health Risk Pathogenic Citrullinemia type II, Citrullinemia
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