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: rs148395034
rs148395034
2 0.925 0.040 1 26058482 stop gained G/A;C snv 7.0E-04; 5.6E-05 0.720 0.500 2 2012 2014
dbSNP: rs140523053
rs140523053
1 1.000 0.040 1 26067352 missense variant G/A snv 1.4E-03 1.3E-03 0.010 1.000 1 2012 2012
dbSNP: rs377334933
rs377334933
1 1.000 0.040 1 26061277 missense variant G/C snv 4.8E-05 3.5E-05 0.010 1.000 1 2012 2012