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: rs121918313
rs121918313
4 0.851 0.080 12 12164494 missense variant G/A snv 1.6E-05 0.800 1.000 2 2007 2013
dbSNP: rs141212743
rs141212743
1 1.000 0.080 12 12181337 missense variant C/T snv 1.2E-04 1.3E-04 0.800 1.000 2 2007 2013
dbSNP: rs397515473
rs397515473
1 1.000 0.080 12 12181118 missense variant T/C snv 2.8E-05 2.1E-05 0.800 1.000 2 2007 2013
dbSNP: rs397515474
rs397515474
1 1.000 0.080 12 12179937 missense variant C/T snv 1.2E-05 2.1E-05 0.800 1.000 2 2007 2013