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: rs28937317
rs28937317
3 0.882 0.120 3 38560418 missense variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs1883112
rs1883112
4 0.851 0.200 22 36860804 intron variant G/A snv 0.39 0.010 1.000 1 2013 2013
dbSNP: rs4673
rs4673
32 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 0.010 1.000 1 2013 2013