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
RS2509299907 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2509299991 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2509300003 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2509300481 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509300511 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509300604 RAD51C Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2509301277 DGKE Health Risk Likely pathogenic —
RS2509305424 SCN4A Health Risk Likely pathogenic SCN4A-related disorder, SCN4A-related disorder
RS2509307905 COQ7 Health Risk Conflicting classifications of pathogenicity COQ7-related disorder, COQ7-related disorder
RS2509308046 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS2509308079 COQ7 Health Risk Likely pathogenic Primary coenzyme Q10 deficiency 8, Primary coenzyme Q10 deficiency 8
RS2509312694 RAD51C Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2509312994 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2509312999 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509313550 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509313565 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2509313576 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2509313987 SCN4A Health Risk Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS2509314301 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS2509315709 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS2509317969 SCN4A Health Risk Pathogenic Congenital myopathy 22B, severe fetal
RS2509318035 SCN4A Health Risk Pathogenic Congenital myopathy 22A, classic
RS2509318698 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS2509324687 SCN4A Health Risk Likely pathogenic SCN4A-related disorder, SCN4A-related disorder
RS2509325722 SCN4A Health Risk Likely pathogenic SCN4A-related disorder, SCN4A-related disorder
RS2509336795 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509336958 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509337046 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509337177 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509337492 RAD51C Health Risk Likely pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2509339083 RNF43 Health Risk Pathogenic Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS2509343002 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS2509343899 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Breast-ovarian cancer
RS2509343956 RAD51C Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2509344172 RAD51C Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2509344423 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2509344483 RAD51C Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2509344581 RAD51C Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2509344663 RAD51C Health Risk Likely pathogenic Gastric cancer, Breast-ovarian cancer
RS2509348557 COQ7 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS2509349181 COQ7 Health Risk Pathogenic Primary coenzyme Q10 deficiency 8, Primary coenzyme Q10 deficiency 8
RS2509357138 PRKAR1A Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509357240 CLTC Health Risk Pathogenic —
RS2509357386 CLTC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 56
RS2509357398 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS2509357401 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS2509357631 STAT3 Health Risk Likely pathogenic —
RS2509357939 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS2509359618 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS2509361365 CLTC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 56
RS2509361452 CLTC Health Risk Likely pathogenic CLTC-related disorder, CLTC-related disorder
RS2509363884 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509363942 RAD51C Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2509363977 RGS9 Health Risk Likely pathogenic —
RS2509364075 RGS9 Health Risk Likely pathogenic —
RS2509364078 RAD51C Health Risk Likely pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS2509364261 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS2509364267 RAD51C Health Risk Likely pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2509364519 G6PC3 Health Risk Likely pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS2509364523 G6PC3 Health Risk Likely pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS2509365373 CLTC Health Risk Pathogenic —
RS2509366238 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS2509366840 RGS9 Health Risk Likely pathogenic —
RS2509368564 RGS9 Health Risk Likely pathogenic —
RS2509369208 G6PC3 Health Risk Likely pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS2509369429 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS2509369753 RAD51C Health Risk Likely pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2509371071 CLTC Health Risk Likely pathogenic —
RS2509371353 G6PC3 Health Risk Likely pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS2509371931 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS2509372929 COQ7 Health Risk Pathogenic Primary coenzyme Q10 deficiency 8, Primary coenzyme Q10 deficiency 8
RS2509376984 COX11 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 23
RS2509378628 CLTC Health Risk Pathogenic —
RS2509378785 CLTC Health Risk Pathogenic —
RS2509380645 HDC Health Risk Likely pathogenic Tourette syndrome, Tourette syndrome
RS2509383539 CLTC Health Risk Pathogenic —
RS2509384180 CLTC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 56
RS2509384283 CLTC Health Risk Pathogenic Intellectual disability, autosomal dominant 56
RS2509384644 CLTC Health Risk Pathogenic Intellectual disability, autosomal dominant 56
RS2509384754 CLTC Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2509387175 RNF43 Health Risk Pathogenic —
RS2509389531 AXIN2 Health Risk Pathogenic/Likely pathogenic AXIN2-related disorder, Hereditary cancer-predisposing syndrome
RS2509389560 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2509389582 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2509390675 STAT3 Health Risk Likely pathogenic STAT3-related disorder, STAT3-related disorder
RS2509391041 STAT3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2509391311 STAT3 Health Risk Pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS2509394487 STAT3 Health Risk Likely pathogenic —
RS2509396464 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS2509396878 AXIN2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509396943 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509397080 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS2509397361 AXIN2 Health Risk Likely pathogenic Colorectal cancer, Colorectal cancer
RS2509397413 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2509397598 AXIN2 Health Risk Likely pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2509398263 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS2509399227 PRKAR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509401757 AXIN2 Health Risk Likely pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2509402115 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509402190 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
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