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
RS2149854259 COL4A4 Health Risk Pathogenic —
RS2149854376 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2149855637 EYS Health Risk Pathogenic —
RS2149856749 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS2149856835 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2149857098 CPLANE1 Health Risk Pathogenic —
RS2149857426 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS2149857465 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149858387 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149858700 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149858813 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149858898 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149858965 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149859064 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149859509 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149859523 APC Health Risk Pathogenic Familial multiple polyposis syndrome, Familial adenomatous polyposis 1
RS2149859555 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149859582 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149860825 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149861868 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149862015 APC Health Risk Pathogenic —
RS2149862031 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149862441 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149862702 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149862704 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149862736 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149862778 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149862783 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS2149862832 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149863411 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149863464 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149864552 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149864798 APC Health Risk Likely pathogenic —
RS2149865515 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149865518 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149865532 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149865588 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149865865 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149865895 RAD50 Health Risk Likely pathogenic Nijmegen breakage syndrome-like disorder, Nijmegen breakage syndrome-like disorder
RS2149866029 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149866092 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149866222 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Colorectal cancer
RS2149866877 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149867683 APC Health Risk Pathogenic Familial multiple polyposis syndrome, Familial adenomatous polyposis 1
RS2149868359 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149869071 EYS Health Risk Pathogenic —
RS2149869230 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149869619 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149869903 APC Health Risk Likely pathogenic —
RS2149870385 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149870772 APC Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2149870906 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS2149871275 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149871600 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Classic or attenuated familial adenomatous polyposis
RS2149871751 NR3C2 Health Risk Pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS2149871784 NR3C2 Health Risk Likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS2149871984 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149872616 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149872632 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149872634 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149872642 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149872651 ZEB2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2149872664 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149872686 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149872716 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149872738 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2149873128 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149875189 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149875484 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149875547 ZEB2 Health Risk Pathogenic —
RS2149876234 KLHL3 Health Risk Likely pathogenic Cerebral palsy, Cerebral palsy
RS2149876241 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149876315 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149876398 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149876411 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149876500 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149876640 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149876649 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149876810 ZEB2 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2149876829 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149876861 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149876873 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149877017 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149877032 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149877058 ZEB2 Health Risk Pathogenic —
RS2149877082 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149877112 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149877154 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149877279 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149877380 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149877416 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149877421 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149877432 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149877492 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149877500 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149877525 ZEB2 Health Risk Likely pathogenic See cases, See cases
RS2149877627 APC Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS2149877941 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Inborn genetic diseases
RS2149877962 ZEB2 Health Risk Pathogenic/Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2149877963 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
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