rs267607071, SMARCAL1

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Schimke immunoosseous dysplasia
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
19 0.925 0.320 2 216475315 missense variant G/A snv 1.6E-05 2.1E-05 0.800 1.000 8 2002 2015
Nephroblastoma
CUI: C0027708
Disease: Nephroblastoma
125 0.925 0.320 2 216475315 missense variant G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2019 2019