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: rs1057519804
rs1057519804
2 1.000 0.040 14 104776711 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs397514644
rs397514644
2 0.925 0.040 14 104780190 missense variant G/A snv 7.0E-06 0.010 1.000 1 2015 2015