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: rs1057519912
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016