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: rs201431517
rs201431517
MTFMT
17 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.800 1.000 1 2012 2012
dbSNP: rs200286768
rs200286768
MTFMT
2 0.925 15 65003238 stop gained G/A;T snv 9.3E-05; 4.0E-06 0.700 0