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: rs132630304
rs132630304
MTM1
3 0.882 0.080 X 150598660 missense variant C/G;T snv 0.010 1.000 1 2012 2012