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: rs121909485
rs121909485
TSFM
1 1.000 0.160 12 57796539 missense variant C/T snv 3.5E-05 0.800 1.000 3 2006 2016
dbSNP: rs750799705
rs750799705
TSFM
1 1.000 0.160 12 57796324 missense variant G/C snv 4.1E-06 7.0E-06 0.700 1.000 3 2006 2016
dbSNP: rs201754030
rs201754030
TSFM
5 0.925 0.200 12 57796461 stop gained C/T snv 1.5E-03 1.3E-03 0.700 0
dbSNP: rs587777688
rs587777688
TSFM
1 1.000 0.160 12 57796549 missense variant G/A snv 3.5E-05 0.700 0
dbSNP: rs587777689
rs587777689
TSFM ; EEF1AKMT3
1 1.000 0.160 12 57782862 missense variant A/G snv 0.700 0