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
RS2142461160 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142465494 SLC46A1 Health Risk Pathogenic —
RS2142467185 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2142467231 SLC46A1 Health Risk Pathogenic —
RS2142473486 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2142473574 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2142474090 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2142474239 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2142474668 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2142474934 RAD51D Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2142474941 RAD51D Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2142477107 RAD51D Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS2142477116 RAD51D Health Risk Likely pathogenic Gastric cancer, Hereditary cancer-predisposing syndrome
RS2142477410 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2142480043 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2142480064 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2142480074 RAD51D Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2142480422 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2142480527 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS2142480699 CDH11 Health Risk Pathogenic Teebi hypertelorism syndrome 2, Teebi hypertelorism syndrome 2
RS2142480769 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2142481060 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142481275 CDH11 Health Risk Pathogenic Teebi hypertelorism syndrome 2, Teebi hypertelorism syndrome 2
RS2142481327 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142492118 CDH11 Health Risk Likely pathogenic Teebi hypertelorism syndrome 2, Elsahy-Waters syndrome
RS2142528709 CDH11 Health Risk Pathogenic Teebi hypertelorism syndrome 2, Teebi hypertelorism syndrome 2
RS2142561742 ARMC5 Health Risk Pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS2142562239 ARMC5 Health Risk Pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS2142575218 ARMC5 Health Risk Likely pathogenic Cushing syndrome due to macronodular adrenal hyperplasia, Cushing syndrome due to macronodular adrenal hyperplasia
RS2142578942 ARMC5 Health Risk Pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS2142580488 ARMC5 Health Risk Pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS2142610073 PIGL Health Risk Likely pathogenic CHIME syndrome, CHIME syndrome
RS2142631323 SLC5A2 Health Risk Likely pathogenic —
RS2142697 HAO1 Health Risk association Nephrolithiasis, calcium oxalate
RS2142701800 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS2142715856 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS2142716129 ALG1 Health Risk Likely pathogenic —
RS2142722780 CTU2 Health Risk Likely pathogenic —
RS2142728485 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS2142751200 PIEZO1 Health Risk Pathogenic —
RS2142762329 PIEZO1 Health Risk Likely pathogenic Non-immune hydrops fetalis, Non-immune hydrops fetalis
RS2142764905 PIEZO1 Health Risk Pathogenic —
RS2142767074 PIEZO1 Health Risk Likely pathogenic —
RS2142767103 TUBGCP4 Health Risk Pathogenic/Likely pathogenic See cases, See cases
RS2142795190 PYGL Health Risk Pathogenic —
RS2142803273 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142808860 DLG4 Health Risk Pathogenic —
RS2142820621 PIEZO1 Health Risk Pathogenic/Likely pathogenic Non-immune hydrops fetalis, Non-immune hydrops fetalis
RS2142821543 DLG4 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142821587 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142821651 DLG4 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142821925 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142822298 DLG4 Health Risk Pathogenic Neurodevelopmental delay, Intellectual developmental disorder 62
RS2142822830 CTCF Health Risk Likely pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2142823841 CTCF Health Risk Pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2142824576 CTCF Health Risk Pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2142825211 DLG4 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142825224 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142825745 DLG4 Health Risk Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142825829 DLG4 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142826609 CTCF Health Risk Pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2142826656 CTCF Health Risk Pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2142827936 CTCF Health Risk Likely pathogenic CTCF-related neurodevelopmental disorder, Melanoma
RS2142828055 CTCF Health Risk Pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2142828170 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142828228 DLG4 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142828286 DLG4 Health Risk Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142830394 DLG4 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142830670 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142830996 DLG4 Health Risk Pathogenic Intellectual disability, Neurodevelopmental delay
RS2142839315 CTCF Health Risk Likely pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2142839453 CTCF Health Risk Likely pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2142839619 CTCF Health Risk Likely pathogenic —
RS2142839688 CTCF Health Risk Conflicting classifications of pathogenicity —
RS2142839733 CTCF Health Risk Conflicting classifications of pathogenicity CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2142843440 DLG4 Health Risk Pathogenic —
RS2142844164 DLG4 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142845390 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142847326 CTCF Health Risk Pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2142847343 CTCF Health Risk Likely pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2142847350 CTCF Health Risk Likely pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2142847418 CTCF Health Risk Conflicting classifications of pathogenicity CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2142847512 CTCF Health Risk Pathogenic/Likely pathogenic CTCF-related neurodevelopmental disorder, Inborn genetic diseases
RS2142849245 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS2142849315 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142849399 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS2142849423 CTCF Health Risk Pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2142849434 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142849459 CTCF Health Risk Likely pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2142849782 CTCF Health Risk Pathogenic CTCF-related neurodevelopmental disorder, CTCF-related disorder
RS2142850286 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142850484 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142850736 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS2142850741 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142850797 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS2142850807 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142850930 MYBPC3 Health Risk Pathogenic —
RS2142850980 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142851045 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142851321 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
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