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 7 2011 2016
dbSNP: rs397514614
rs397514614
MTFMT
1 1.000 15 65026876 missense variant G/A snv 4.0E-06 0.800 1.000 1 2011 2011
dbSNP: rs1555404423
rs1555404423
MTFMT
1 1.000 15 65029523 stop gained G/A snv 0.700 0
dbSNP: rs200286768
rs200286768
MTFMT
2 0.925 15 65003238 stop gained G/A;T snv 9.3E-05; 4.0E-06 0.700 0
dbSNP: rs397514613
rs397514613
MTFMT
1 1.000 15 65026868 stop gained G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs587777244
rs587777244
MTFMT
1 1.000 15 65023762 missense variant G/A;T snv 8.1E-06; 4.0E-06 0.700 0
dbSNP: rs587777417
rs587777417
MTFMT
1 1.000 15 65029461 frameshift variant AGCACCCG/- delins 8.2E-06 0.700 0
dbSNP: rs587777418
rs587777418
MTFMT
1 1.000 15 65006127 missense variant C/T snv 0.700 0
dbSNP: rs587777419
rs587777419
MTFMT
1 1.000 15 65029541 stop gained G/A snv 0.700 0
dbSNP: rs777725264
rs777725264
MTFMT
1 1.000 15 65027028 frameshift variant CTTT/- delins 1.6E-05; 4.0E-06 7.0E-06 0.700 0
dbSNP: rs863224897
rs863224897
MTFMT
1 1.000 15 65003116 frameshift variant A/- delins 0.700 0