Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199469667
rs199469667
MED12
3 0.925 0.120 X 71119380 missense variant T/G snv 0.010 1.000 1 2017 2017