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
RS1085307794 CHD8 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS1085307795 CPLANE1 Health Risk Pathogenic —
RS1085307796 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1085307797 TAFAZZIN Health Risk Pathogenic/Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS1085307800 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS1085307802 TYMP Health Risk Pathogenic —
RS1085307804 SLC6A1 Health Risk Pathogenic/Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1085307806 TULP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, TULP1-related disorder
RS1085307808 COL4A5 Health Risk Pathogenic —
RS1085307810 CAD Health Risk Pathogenic —
RS1085307811 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1085307816 COL4A1 Health Risk Pathogenic Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
RS1085307818 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1085307819 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1085307823 VPS13A Health Risk Pathogenic/Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS1085307825 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1085307826 PURA Health Risk Conflicting classifications of pathogenicity —
RS1085307830 CHD7 Health Risk Pathogenic —
RS1085307831 HNRNPK Health Risk Pathogenic —
RS1085307837 COL18A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1085307838 CNTNAP2 Health Risk Likely pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS1085307841 FGD1 Health Risk Likely pathogenic —
RS1085307843 EHMT1 Health Risk Pathogenic —
RS1085307845 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1085307849 COL7A1 Health Risk Pathogenic —
RS1085307851 DCX Health Risk Pathogenic —
RS1085307853 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1085307855 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1085307857 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1085307859 MBD5 Health Risk Pathogenic —
RS1085307870 NONO Health Risk Pathogenic —
RS1085307871 SYNGAP1 Health Risk Pathogenic —
RS1085307872 ACVRL1 Health Risk Pathogenic —
RS1085307873 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1085307874 SPG7 Health Risk Pathogenic —
RS1085307875 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1085307876 GNAO1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy
RS1085307877 EXT2 Health Risk Pathogenic —
RS1085307879 FGFR1 Health Risk Likely pathogenic —
RS1085307880 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS1085307883 IKBKG Health Risk Pathogenic —
RS1085307884 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1085307885 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1085307886 FAT4 Health Risk Likely pathogenic —
RS1085307887 FBN1 Health Risk Likely pathogenic —
RS1085307888 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1085307889 TNNT2 Health Risk Likely pathogenic —
RS1085307891 PTEN Health Risk Pathogenic —
RS1085307892 SCN1A Health Risk Likely pathogenic —
RS1085307893 LOC102724058;SCN1A;SCN1A-AS1 Health Risk Likely pathogenic Early-infantile DEE, Generalized epilepsy with febrile seizures plus
RS1085307894 GNAO1 Health Risk Pathogenic —
RS1085307895 ARSL Health Risk Likely pathogenic —
RS1085307896 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1085307897 MYBPC3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1085307898 SCN2A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1085307899 SRCAP Health Risk Pathogenic Floating-Harbor syndrome, Floating-Harbor syndrome
RS1085307900 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS1085307901 SCN1A Health Risk Pathogenic —
RS1085307902 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1085307903 NSD1 Health Risk Likely pathogenic —
RS1085307904 FBN1 Health Risk Likely pathogenic —
RS1085307905 KCNQ2 Health Risk Pathogenic —
RS1085307906 NPR2 Health Risk Likely pathogenic —
RS1085307907 COL4A1 Health Risk Likely pathogenic —
RS1085307908 ATP2A2 Health Risk Likely pathogenic —
RS1085307909 RYR1 Health Risk Likely pathogenic —
RS1085307910 NIPBL Health Risk Pathogenic —
RS1085307911 EP300 Health Risk Likely pathogenic —
RS1085307913 HNF4A Health Risk Pathogenic Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young
RS1085307914 USP9X Health Risk Likely pathogenic —
RS1085307915 SPTBN2 Health Risk Likely pathogenic —
RS1085307916 STXBP1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 4
RS1085307917 B3GAT3 Health Risk Likely pathogenic —
RS1085307918 PYGM Health Risk Likely pathogenic —
RS1085307919 DCX Health Risk Likely pathogenic —
RS1085307920 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS1085307921 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1085307923 ARID1A Health Risk Likely pathogenic —
RS1085307924 SMARCE1 Health Risk Likely pathogenic —
RS1085307925 DHCR7 Health Risk Likely pathogenic —
RS1085307926 DHCR7 Health Risk Conflicting classifications of pathogenicity —
RS1085307927 BTK Health Risk Likely pathogenic —
RS1085307928 TRMU Health Risk Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS1085307929 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1085307930 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1085307931 STAT3 Health Risk Likely pathogenic —
RS1085307932 GNAO1 Health Risk Likely pathogenic —
RS1085307933 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS1085307934 CDKL5 Health Risk Likely pathogenic —
RS1085307935 COL18A1 Health Risk Conflicting classifications of pathogenicity —
RS1085307936 IDH2 Health Risk Likely pathogenic —
RS1085307937 TWNK Health Risk Likely pathogenic —
RS1085307938 CLCN2 Health Risk Pathogenic/Likely pathogenic Familial hyperaldosteronism type II, Familial hyperaldosteronism type II
RS1085307939 POLR3A Health Risk Likely pathogenic —
RS1085307940 SCN8A Health Risk Pathogenic —
RS1085307941 MED12 Health Risk Likely pathogenic Blepharophimosis - intellectual disability syndrome, MKB type
RS1085307942 SCN1A Health Risk Likely pathogenic —
RS1085307943 KCNH2 Health Risk Likely pathogenic —
RS1085307944 NBAS Health Risk Conflicting classifications of pathogenicity Infantile liver failure syndrome 2, Infantile liver failure syndrome 2
RS1085307945 SCN1A Health Risk Likely pathogenic —
« Prev 1 ... 129 130 131 132 133 134 135 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →