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
RS1064793801 L1CAM Health Risk Pathogenic X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome
RS1064793802 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793803 SCN1A Health Risk Pathogenic —
RS1064793806 TPP1 Health Risk Pathogenic —
RS1064793808 PIGN Health Risk Likely pathogenic —
RS1064793809 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064793810 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS1064793811 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1064793812 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1064793814 TTN Health Risk Pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1064793817 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064793819 NKX2-1 Health Risk Likely pathogenic —
RS1064793820 SATB2 Health Risk Pathogenic —
RS1064793822 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793823 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1064793824 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1064793825 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064793827 PALB2 Health Risk Pathogenic —
RS1064793829 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1064793830 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1064793831 MEGF10 Health Risk Pathogenic —
RS1064793832 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1064793835 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Malignant tumor of pancreas
RS1064793837 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1064793838 PIK3CA Health Risk Pathogenic Cowden syndrome, Cowden syndrome
RS1064793840 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1064793842 FOXP2 Health Risk Pathogenic —
RS1064793843 NSD1 Health Risk Pathogenic —
RS1064793844 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1064793845 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1064793847 PHEX Health Risk Pathogenic Hypophosphatemic rickets, Hypophosphatemic rickets
RS1064793849 CRB2 Health Risk Pathogenic CRB2-related disorder, CRB2-related disorder
RS1064793850 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1064793851 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Inborn genetic diseases
RS1064793852 KCNQ2 Health Risk Pathogenic —
RS1064793853 TSC2 Health Risk Pathogenic —
RS1064793854 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1064793855 KCNH2 Health Risk Pathogenic —
RS1064793856 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS1064793857 GLI2 Health Risk Pathogenic —
RS1064793858 DDX3X Health Risk Likely pathogenic Neurodevelopmental delay, Intellectual disability
RS1064793859 BTK Health Risk Pathogenic/Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
RS1064793860 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793863 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793865 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064793868 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064793870 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064793873 SMAD2 Health Risk Pathogenic Congenital heart defects, multiple types
RS1064793874 TAF1 Health Risk Likely pathogenic Intellectual disability, X-linked
RS1064793875 BICD2 Health Risk Pathogenic —
RS1064793876 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064793877 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1064793878 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1064793879 SLC12A3 Health Risk Pathogenic —
RS1064793880 ELN Health Risk Pathogenic —
RS1064793881 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Squamous cell carcinoma of the head and neck
RS1064793882 LMNA Health Risk Likely pathogenic —
RS1064793883 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064793884 KMT2D Health Risk Pathogenic —
RS1064793885 TRPS1 Health Risk Pathogenic —
RS1064793887 BRIP1 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS1064793888 TTN Health Risk Pathogenic —
RS1064793889 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1064793890 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1064793891 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1064793894 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064793895 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064793896 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa gravis of Herlitz
RS1064793897 CDC73 Health Risk Pathogenic —
RS1064793898 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064793899 ARID1B Health Risk Pathogenic —
RS1064793900 ATP2A2 Health Risk Pathogenic —
RS1064793904 COL7A1 Health Risk Pathogenic —
RS1064793905 PKP2 Health Risk Pathogenic —
RS1064793906 CEP152 Health Risk Pathogenic —
RS1064793908 COL7A1 Health Risk Pathogenic —
RS1064793909 CHD7 Health Risk Pathogenic —
RS1064793911 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064793913 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1064793914 FBN1 Health Risk Likely pathogenic Connective tissue disorder, Cardiovascular phenotype
RS1064793915 COL7A1 Health Risk Pathogenic —
RS1064793916 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS1064793917 SERPING1 Health Risk Pathogenic —
RS1064793918 PHEX Health Risk Pathogenic —
RS1064793920 L1CAM Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1064793921 PTCH1 Health Risk Pathogenic Gorlin syndrome, Basal cell nevus syndrome 1
RS1064793922 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1064793923 SCN8A Health Risk Likely pathogenic Cognitive impairment with or without cerebellar ataxia, Early-infantile DEE
RS1064793924 AHDC1 Health Risk Pathogenic —
RS1064793925 SHANK3 Health Risk Pathogenic —
RS1064793927 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064793928 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064793929 TP53 Health Risk Pathogenic Ovarian neoplasm, Hereditary cancer-predisposing syndrome
RS1064793931 PRPH2 Health Risk Likely pathogenic Stargardt disease, PRPH2-related disorder
RS1064793932 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1064793933 GABRA1 Health Risk Pathogenic —
RS1064793934 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1064793935 CRYBB1 Health Risk Pathogenic/Likely pathogenic Cataract 17 multiple types, Cataract 17
RS1064793936 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1064793938 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
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