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
RS2493774328 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493774335 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
RS2493774383 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493774477 PTEN Health Risk Likely pathogenic PTEN-related disorder, PTEN-related disorder
RS2493774536 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493774567 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493774585 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493774642 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493774679 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493774758 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493774766 PTEN Health Risk Pathogenic —
RS2493774842 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493774871 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493775083 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493775180 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493775188 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493775228 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493775238 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493775261 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493775270 PTEN Health Risk Pathogenic PTEN-related disorder, PTEN-related disorder
RS2493775289 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS2493775322 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493775327 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493775481 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493775605 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493775678 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493775848 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493775879 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493775901 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS2493775929 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493776008 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493776024 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493776166 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493776185 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493776360 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493776450 PTEN Health Risk Pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS2493776540 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493776565 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493776651 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493776713 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493776758 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493776791 PTEN Health Risk Pathogenic Cowden syndrome 1, Neoplasm
RS2493776862 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493776899 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493776987 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493776990 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493777058 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493777064 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493777094 PTEN Health Risk Likely pathogenic PTEN-related disorder, PTEN-related disorder
RS2493777122 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493777183 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493777204 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493777300 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493777311 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493785354 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493785459 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493785495 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493786124 MYO3A Health Risk Likely pathogenic —
RS2493786247 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493786383 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493787175 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493795068 TPP1 Health Risk Pathogenic —
RS2493795112 TPP1 Health Risk Pathogenic —
RS2493795199 TPP1 Health Risk Likely pathogenic —
RS2493795720 TPP1 Health Risk Pathogenic —
RS2493795881 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS2493795977 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2493795992 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2493796691 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2493796805 TPP1 Health Risk Likely pathogenic —
RS2493796806 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2493796837 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2493796924 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2493796952 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2493797010 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2493797341 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2493797587 TPP1 Health Risk Likely pathogenic —
RS2493797672 TPP1 Health Risk Pathogenic —
RS2493798186 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2493798203 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2493798336 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493798366 TPP1 Health Risk Pathogenic —
RS2493798396 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493798453 TPP1 Health Risk Pathogenic —
RS2493798476 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2493798730 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2493798748 TPP1 Health Risk Likely pathogenic —
RS2493798861 TPP1 Health Risk Pathogenic —
RS2493798930 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2493798943 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2493799058 TPP1 Health Risk Pathogenic —
RS2493799100 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS2493799201 SMPD1 Health Risk Likely pathogenic Sphingomyelin/cholesterol lipidosis, Sphingomyelin/cholesterol lipidosis
RS2493799334 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2493799376 TPP1 Health Risk Pathogenic —
RS2493799479 TPP1 Health Risk Pathogenic —
RS2493799507 TPP1 Health Risk Pathogenic —
RS2493799561 TPP1 Health Risk Pathogenic —
RS2493799615 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493799918 TPP1 Health Risk Pathogenic —
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