Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519787
rs1057519787
1.000 0.040 17 39711952 missense variant G/A;C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2013 2013
dbSNP: rs1057519787
rs1057519787
1.000 0.040 17 39711952 missense variant G/A;C snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.700 1.000 1 2012 2012