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: rs1057519913
rs1057519913
0.925 0.120 1 11157172 missense variant G/C snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519913
rs1057519913
0.925 0.120 1 11157172 missense variant G/C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057519913
rs1057519913
0.925 0.120 1 11157172 missense variant G/C snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.700 1.000 1 2016 2016