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
RS587776832 NR3C1 Health Risk Pathogenic Glucocorticoid resistance, Glucocorticoid resistance
RS587776833 FLT4 Health Risk Pathogenic/Likely pathogenic Hereditary lymphedema type I, Hereditary lymphedema type I
RS587776834 FLT3 Health Risk Pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS587776835 FGFR1 Health Risk risk factor Hypogonadotropic hypogonadism 2 with anosmia, Hypogonadotropic hypogonadism 2 with anosmia
RS587776836 FGFR3 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS587776837 FGG Health Risk Likely pathogenic Congenital afibrinogenemia, Hypofibrinogenemia
RS587776838 FGG Health Risk Pathogenic Congenital afibrinogenemia, Congenital afibrinogenemia
RS587776839 FGG Health Risk Pathogenic Congenital afibrinogenemia, Congenital afibrinogenemia
RS587776840 FTL Health Risk Pathogenic Neuroferritinopathy, Neuroferritinopathy
RS587776841 MEN1 Health Risk Pathogenic Lipoma, somatic
RS587776843 IL10 Health Risk Pathogenic Rheumatoid arthritis, progression of
RS587776844 KRT4 Health Risk Pathogenic White sponge nevus 1, White sponge nevus 1
RS587776845 KRT4 Health Risk Pathogenic White sponge nevus 1, White sponge nevus 1
RS587776846 C5 Health Risk Pathogenic Complement component 5 deficiency, Complement component 5 deficiency
RS587776847 COL2A1 Health Risk Pathogenic Kniest dysplasia, Kniest dysplasia
RS587776848 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS587776849 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS587776850 CTNNB1 Health Risk Pathogenic; other Carcinoma of colon, Nephroblastoma
RS587776851 NPPA Health Risk Pathogenic Atrial fibrillation, familial
RS587776852 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia 1
RS587776853 IFNGR1 Health Risk Pathogenic Immunodeficiency 27A, Immunodeficiency 27A
RS587776854 IFNGR1 Health Risk Pathogenic Immunodeficiency 27A, Immunodeficiency 27A
RS587776855 IFNGR1 Health Risk Pathogenic Immunodeficiency 27A, Immunodeficiency 27A
RS587776856 IFNGR1 Health Risk Pathogenic Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, IFN-gamma receptor 1 deficiency
RS587776857 IFNGR1 Health Risk Pathogenic Immunodeficiency 27A, Immunodeficiency 27A
RS587776859 IFNGR1 Health Risk Pathogenic Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
RS587776860 IFNGR1 Health Risk Pathogenic Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
RS587776862 CHRM3 Health Risk Pathogenic Prune belly syndrome, Prune belly syndrome
RS587776863 FBN1 Health Risk Pathogenic Acromicric dysplasia, Acromicric dysplasia
RS587776864 HBG2 Health Risk Likely pathogenic Cyanosis, transient neonatal
RS587776867 MBTPS2 Health Risk Likely pathogenic Keratosis follicularis spinulosa decalvans, X-linked
RS587776868 CHRDL1 Health Risk Pathogenic Megalocornea, Megalocornea
RS587776870 STAT1 Health Risk Pathogenic Immunodeficiency 31B, Immunodeficiency 31B
RS587776871 GUCY2C Health Risk Pathogenic Congenital diarrhea 6, Congenital diarrhea 6
RS587776872 GATA6 Health Risk Pathogenic Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
RS587776873 HTRA1 Health Risk Pathogenic/Likely pathogenic CARASIL syndrome, CARASIL syndrome
RS587776874 DDOST Health Risk Pathogenic Congenital disorder of glycosylation type Ir, Congenital disorder of glycosylation type Ir
RS587776875 RAB18 Health Risk Pathogenic Warburg micro syndrome 3, Warburg micro syndrome 3
RS587776877 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS587776878 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS587776879 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS587776880 SMAD3 Health Risk Pathogenic Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS587776881 SMAD3 Health Risk Pathogenic Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS587776882 SMAD3 Health Risk Pathogenic Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS587776883 RBBP8 Health Risk Pathogenic Seckel syndrome 2, Seckel syndrome 2
RS587776884 RBBP8 Health Risk Pathogenic Jawad syndrome, Jawad syndrome
RS587776885 SH2B3 Health Risk Pathogenic Primary myelofibrosis, Primary myelofibrosis
RS587776886 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS587776888 GJC2 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 2, Spastic paraplegia
RS587776889 MMACHC Health Risk Pathogenic Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism
RS587776890 ATP13A2 Health Risk Pathogenic Kufor-Rakeb syndrome, Kufor-Rakeb syndrome
RS587776891 FA2H Health Risk Pathogenic Hereditary spastic paraplegia 35, Spastic paraplegia
RS587776892 DNAJC5 Health Risk Pathogenic Ceroid lipofuscinosis, neuronal
RS587776893 ERLIN2 Health Risk Pathogenic Hereditary spastic paraplegia 18, Hereditary spastic paraplegia 18
RS587776894 PDZD7 Health Risk Pathogenic Usher syndrome type 2A, Hearing loss
RS587776895 CANT1 Health Risk Pathogenic/Likely pathogenic Desbuquois dysplasia 1, CANT1-related disorder
RS587776896 CANT1 Health Risk Pathogenic/Likely pathogenic Desbuquois dysplasia 1, Epiphyseal dysplasia
RS587776897 CANT1 Health Risk Pathogenic Desbuquois dysplasia 1, Inborn genetic diseases
RS587776898 CANT1 Health Risk Pathogenic Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS587776899 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS587776900 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS587776901 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS587776902 SCARF2 Health Risk Pathogenic Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome
RS587776903 ZNF644 Health Risk Pathogenic Myopia 21, autosomal dominant
RS587776904 COX14 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 10
RS587776905 GUCY2C Health Risk Pathogenic Meconium ileus, Meconium ileus
RS587776906 WDR81 Health Risk Pathogenic/Likely pathogenic Cerebellar ataxia, intellectual disability
RS587776908 NSUN2 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 5
RS587776909 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Jeune thoracic dystrophy
RS587776910 DNAAF19 Health Risk Pathogenic Primary ciliary dyskinesia 17, Primary ciliary dyskinesia 17
RS587776911 FAM20A Health Risk Pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS587776912 FAM20A Health Risk Pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS587776913 FAM20A Health Risk Pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS587776914 FAM20A Health Risk Pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS587776915 RIN2 Health Risk Pathogenic RIN2 syndrome, RIN2 syndrome
RS587776916 IFITM5;PGGHG Health Risk Pathogenic Osteogenesis imperfecta type 5, Postmenopausal osteoporosis
RS587776917 ECEL1 Health Risk Pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS587776918 ECEL1 Health Risk Pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS587776919 ECEL1 Health Risk Likely pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS587776920 ECEL1 Health Risk Pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS587776922 ANO3 Health Risk Pathogenic Dystonia 24, Dystonia 24
RS587776923 ANO3 Health Risk Pathogenic Dystonia 24, Dystonia 24
RS587776924 SNRPE Health Risk Conflicting classifications of pathogenicity Hypotrichosis 11, Hypotrichosis 11
RS587776925 SNRPE Health Risk Pathogenic Hypotrichosis 11, Hypotrichosis 11
RS587776926 SLC30A2 Health Risk Pathogenic Zinc deficiency, transient neonatal
RS587776927 ADAMTSL4 Health Risk Pathogenic Ectopia lentis 2, isolated
RS587776928 C1GALT1C1 Health Risk Pathogenic Polyagglutinable erythrocyte syndrome, Polyagglutinable erythrocyte syndrome
RS587776929 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS587776930 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS587776931 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Inborn genetic diseases
RS587776932 PIK3CA Health Risk Pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome, Abnormal cardiovascular system morphology
RS587776933 PIK3CA Health Risk Pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome, Cowden syndrome
RS587776934 PIK3R2 Health Risk Pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Inborn genetic diseases
RS587776935 AKT3 Health Risk Pathogenic/Likely pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Polymicrogyria
RS587776936 GATA6 Health Risk Pathogenic Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
RS587776937 GRIA1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Intellectual developmental disorder
RS587776938 SRCAP Health Risk Pathogenic Floating-Harbor syndrome, Floating-Harbor syndrome
RS587776939 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS587776940 EPG5 Health Risk Pathogenic Vici syndrome, EPG5-related disorder
RS587776941 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
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