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: rs121913243
rs121913243
MET
7 0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05 0.700 1.000 7 1997 2015
dbSNP: rs121913246
rs121913246
MET
7 0.827 0.200 7 116783360 missense variant A/G snv 0.700 1.000 7 1997 2015
dbSNP: rs121913668
rs121913668
MET
4 0.882 0.120 7 116778827 missense variant T/C snv 0.700 1.000 7 1997 2015
dbSNP: rs121913669
rs121913669
MET
2 0.925 0.120 7 116782027 missense variant G/A;T snv 4.0E-06 0.700 1.000 7 1997 2015
dbSNP: rs121913670
rs121913670
MET
3 0.925 0.120 7 116783329 missense variant G/A snv 0.700 1.000 7 1997 2015
dbSNP: rs121913673
rs121913673
MET
3 0.925 0.120 7 116782048 missense variant C/G;T snv 0.700 1.000 7 1997 2015
dbSNP: rs121913244
rs121913244
MET
2 0.925 0.120 7 116777409 missense variant C/T snv 0.700 1.000 5 1997 1999
dbSNP: rs121913245
rs121913245
MET
3 0.925 0.120 7 116783420 missense variant T/C snv 0.700 1.000 5 1997 1999
dbSNP: rs121913247
rs121913247
MET
3 0.882 0.200 7 116783359 missense variant T/C snv 0.700 1.000 5 1997 1999
dbSNP: rs121913671
rs121913671
MET
4 0.882 0.160 7 116783353 missense variant G/A;C snv 0.700 1.000 5 1997 1999
dbSNP: rs786202724
rs786202724
MET
5 0.925 0.120 7 116777403 missense variant G/A snv 7.0E-06 0.700 1.000 5 1997 1999
dbSNP: rs121909219
rs121909219
PTEN
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs587780174
rs587780174
CHEK2
7 0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05 0.700 0