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
RS2107651195 SETD2 Health Risk Pathogenic Luscan-Lumish syndrome, Intellectual developmental disorder
RS2107651275 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2107651297 ACAD9 Health Risk Pathogenic —
RS2107651375 ACAD9 Health Risk Likely pathogenic —
RS2107651486 CASR Health Risk Pathogenic —
RS2107651620 SETD2 Health Risk Pathogenic Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS2107651840 SETD2 Health Risk Likely pathogenic See cases, See cases
RS2107651962 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107653861 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2107654116 COL7A1 Health Risk Likely pathogenic —
RS2107654130 COL7A1 Health Risk Likely pathogenic —
RS2107655510 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2107656502 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2107657132 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107657268 COL7A1 Health Risk Likely pathogenic —
RS2107657717 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2107657797 ACAD9 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, Mitochondrial complex I deficiency
RS2107657800 ACAD9 Health Risk Likely pathogenic —
RS2107658582 ADCY5 Health Risk Pathogenic Dyskinesia with orofacial involvement, autosomal dominant
RS2107658703 COL7A1 Health Risk Likely pathogenic —
RS2107658867 ADCY5 Health Risk Likely pathogenic —
RS2107659422 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2107659507 ACAD9 Health Risk Pathogenic —
RS2107659593 ACAD9 Health Risk Pathogenic —
RS2107659720 COL7A1 Health Risk Pathogenic —
RS2107659875 COL7A1 Health Risk Conflicting classifications of pathogenicity Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107659888 COL7A1 Health Risk Pathogenic/Likely pathogenic Recessive dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS2107660525 COL7A1 Health Risk Likely pathogenic Generalized dominant dystrophic epidermolysis bullosa, COL7A1-related disorder
RS2107660536 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107661371 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2107661505 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Pretibial dystrophic epidermolysis bullosa
RS2107661511 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2107662258 COL7A1 Health Risk Likely pathogenic Transient bullous dermolysis of the newborn, Transient bullous dermolysis of the newborn
RS2107662598 ACAD9 Health Risk Likely pathogenic —
RS2107663241 COL7A1 Health Risk Pathogenic —
RS2107663986 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107664575 ACAD9 Health Risk Likely pathogenic Mitochondrial complex I deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2107665131 COL7A1 Health Risk Likely pathogenic Transient bullous dermolysis of the newborn, Transient bullous dermolysis of the newborn
RS2107667545 COL7A1 Health Risk Likely pathogenic Abnormality of the skin, Abnormality of the skin
RS2107667819 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107667915 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668010 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668041 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668072 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668094 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668103 GATA2 Health Risk Likely pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668104 GATA2 Health Risk Conflicting classifications of pathogenicity GATA2 deficiency with susceptibility to MDS/AML, Deafness-lymphedema-leukemia syndrome
RS2107668121 GATA2 Health Risk Likely pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668482 COL7A1 Health Risk Likely pathogenic —
RS2107668551 GATA2 Health Risk Likely pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668560 GATA2 Health Risk Pathogenic/Likely pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668566 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668582 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668584 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668588 GATA2 Health Risk Likely pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668593 GATA2 Health Risk Likely pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668601 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668602 GATA2 Health Risk Likely pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668617 GATA2 Health Risk Likely pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668634 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668638 GATA2 Health Risk Likely pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668641 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668647 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668655 GATA2 Health Risk Likely pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668679 GATA2 Health Risk Likely pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668680 GATA2 Health Risk Conflicting classifications of pathogenicity GATA2 deficiency with susceptibility to MDS/AML, Deafness-lymphedema-leukemia syndrome
RS2107668687 GATA2 Health Risk Conflicting classifications of pathogenicity GATA2 deficiency with susceptibility to MDS/AML, Deafness-lymphedema-leukemia syndrome
RS2107668693 GATA2 Health Risk Pathogenic/Likely pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668699 GATA2 Health Risk Conflicting classifications of pathogenicity GATA2 deficiency with susceptibility to MDS/AML, Deafness-lymphedema-leukemia syndrome
RS2107668704 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2107668727 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668733 GATA2 Health Risk Likely pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668739 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668749 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668760 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668769 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668773 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668788 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668794 GATA2 Health Risk Likely pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668805 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668806 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668812 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668823 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668827 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668832 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668848 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668860 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668869 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107668943 COL7A1 Health Risk Likely pathogenic —
RS2107669589 COL7A1 Health Risk Likely pathogenic —
RS2107669831 COL7A1 Health Risk Likely pathogenic 7 conditions, 7 conditions
RS2107670113 COL7A1 Health Risk Pathogenic —
RS2107670284 COL7A1 Health Risk Pathogenic —
RS2107670301 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107670326 GATA2 Health Risk Likely pathogenic —
RS2107670328 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107670331 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107670346 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107670366 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107670386 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
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