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
RS1555915854 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS1555916009 TSPEAR Health Risk Pathogenic Ectodermal dysplasia 14, hair/tooth type
RS1555916935 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555916968 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555916987 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555917031 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555917041 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555917045 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1555917050 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1555917396 TCF4 Health Risk Likely pathogenic —
RS1555917595 TCF4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555917927 USP9X Health Risk Pathogenic Intellectual disability, X-linked 99
RS1555918014 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS1555918056 BCOR Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555919695 BCOR Health Risk Pathogenic —
RS1555919843 BCOR Health Risk Pathogenic —
RS1555919860 USP9X Health Risk Likely pathogenic —
RS1555920142 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555920150 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555920257 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555920271 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555921011 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555921143 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1555921240 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555921290 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555921323 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1555921327 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555921387 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555921406 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555921455 USP9X Health Risk Pathogenic —
RS1555921959 TSPEAR Health Risk Pathogenic —
RS1555922327 SLC25A1 Health Risk Likely pathogenic —
RS1555922391 USP9X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555923089 SLC25A1 Health Risk Pathogenic —
RS1555923508 TCF20 Health Risk Pathogenic —
RS1555923822 TCF20 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555924331 RPS6KA3 Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 19
RS1555924435 TCF20 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555924538 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555924704 RPS6KA3 Health Risk Likely pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS1555924860 USP9X Health Risk Pathogenic —
RS1555925903 TCF20 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555926209 TCF20 Health Risk Pathogenic Inborn genetic diseases, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS1555926655 TCF20 Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS1555926708 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555926975 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555926996 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555927038 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555927050 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555927137 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555927148 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1555927165 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555927291 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555927302 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555927312 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555927321 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 10, Cardiovascular phenotype
RS1555927374 CHEK2 Health Risk Pathogenic Sarcoma, Familial cancer of breast
RS1555927398 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555927532 RPS6KA3 Health Risk Likely pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS1555927544 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1555927554 RPS6KA3 Health Risk Pathogenic Inborn genetic diseases, Coffin-Lowry syndrome
RS1555927561 LZTR1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1555927611 LZTR1 Health Risk Likely pathogenic —
RS1555927613 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1555927827 LZTR1 Health Risk Likely pathogenic —
RS1555928249 LZTR1 Health Risk Pathogenic Noonan syndrome 2, RASopathy
RS1555928535 LZTR1 Health Risk Likely pathogenic LZTR1-related schwannomatosis, LZTR1-related schwannomatosis
RS1555928716 RPS6KA3 Health Risk Pathogenic 7 conditions, Inborn genetic diseases
RS1555928736 RPS6KA3 Health Risk Pathogenic —
RS1555930128 USP9X Health Risk Pathogenic Intellectual disability, X-linked 99
RS1555930523 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1555932071 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1555932116 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555932231 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555932326 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555932335 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555932341 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555932344 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555932481 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555932518 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555932583 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555932735 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555932766 USP9X Health Risk Likely pathogenic Intellectual disability, X-linked 99
RS1555932877 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555932913 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555932985 CHEK2 Health Risk Conflicting classifications of pathogenicity —
RS1555933442 AMER1 Health Risk Likely pathogenic —
RS1555933578 AMER1 Health Risk Likely pathogenic Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis
RS1555933616 ZC4H2 Health Risk Likely pathogenic Wieacker-Wolff syndrome, ZC4H2-related disorder
RS1555933643 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS1555933663 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS1555933732 USP9X Health Risk Pathogenic —
RS1555933851 ZC4H2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555933937 USP9X Health Risk Pathogenic —
RS1555933954 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS1555933963 PDHA1 Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency
RS1555933969 USP9X Health Risk Likely pathogenic Intellectual disability, X-linked 99
RS1555933972 USP9X Health Risk Pathogenic —
RS1555934165 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS1555934336 PDHA1 Health Risk Pathogenic Inborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiency
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