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: rs112292549
rs112292549
TGM5
1 1.000 0.040 15 43260151 missense variant C/A snv 2.3E-03 2.5E-03 0.710 1.000 7 2005 2016
dbSNP: rs115677373
rs115677373
TGM5
1 1.000 0.040 15 43252858 missense variant A/G snv 2.7E-04 1.5E-04 0.700 1.000 3 2010 2018
dbSNP: rs778322388
rs778322388
TGM5
1 1.000 0.040 15 43260233 frameshift variant G/- delins 1.0E-04 2.1E-05 0.700 1.000 2 2014 2015
dbSNP: rs143601447
rs143601447
TGM5
1 1.000 0.040 15 43260468 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs606231276
rs606231276
TGM5
1 1.000 0.040 15 43238827 missense variant C/G snv 4.4E-05 0.700 0
dbSNP: rs606231277
rs606231277
TGM5
2 0.925 0.080 15 43253550 frameshift variant G/- del 1.2E-05 0.700 0
dbSNP: rs606231278
rs606231278
TGM5
1 1.000 0.040 15 43234829 frameshift variant ACTGC/TGAAGGA delins 0.700 0