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
RS886039867 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS886039868 CD46 Health Risk Pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
RS886039869 CFH Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical
RS886039870 SLC12A1 Health Risk Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS886039871 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS886039872 ABHD12 Health Risk Likely pathogenic PHARC syndrome, PHARC syndrome
RS886039875 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS886039877 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS886039878 GDF5 Health Risk Likely pathogenic Brachydactyly type C, Brachydactyly type C
RS886039880 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS886039881 CHD7 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 5 with or without anosmia, Hypogonadotropic hypogonadism 5 with or without anosmia
RS886039882 ABCA4 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 3, Cone-rod dystrophy 3
RS886039883 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS886039886 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS886039887 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS886039888 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS886039890 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS886039893 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS886039894 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS886039895 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS886039896 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Abnormality of the musculature
RS886039897 PRMT7 Health Risk Pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS886039898 CTSA Health Risk Conflicting classifications of pathogenicity Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS886039899 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS886039900 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS886039902 ANKRD11 Health Risk Pathogenic/Likely pathogenic KBG syndrome, Global developmental delay
RS886039903 FGF12 Health Risk Pathogenic Developmental and epileptic encephalopathy, 47
RS886039904 GJC2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS886039905 COL6A2 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS886039906 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS886039908 GPC3 Health Risk Likely pathogenic Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1
RS886039909 HSPG2 Health Risk Likely pathogenic Schwartz-Jampel syndrome, Schwartz-Jampel syndrome
RS886039911 RPGRIP1 Health Risk Likely pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS886039913 TTN Health Risk Likely pathogenic Muscular dystrophy, Dilated cardiomyopathy 1G
RS886039914 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS886039915 CHD4 Health Risk Pathogenic Sifrim-Hitz-Weiss syndrome, Inborn genetic diseases
RS886039916 CHD4 Health Risk Pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS886039917 CHD4 Health Risk Pathogenic Sifrim-Hitz-Weiss syndrome, Uterine corpus endometrial carcinoma
RS886039918 CHD4 Health Risk Pathogenic/Likely pathogenic Sifrim-Hitz-Weiss syndrome, Inborn genetic diseases
RS886039919 CHD4 Health Risk Pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS886039920 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039921 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039922 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039923 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039924 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039925 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039926 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039927 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039928 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039929 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039930 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039931 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039932 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039933 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039934 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039935 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039936 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039937 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039938 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039939 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS886039940 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039941 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039942 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039943 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039945 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039946 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039947 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS886039949 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039950 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039951 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039952 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039953 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039954 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039955 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039956 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039957 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS886039959 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039960 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039961 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039962 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039963 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039965 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039966 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039967 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039968 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039969 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039970 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039971 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039973 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039974 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039975 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039976 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039977 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039978 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039979 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039980 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039981 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039982 BRCA1 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS886039983 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039984 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
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