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: rs59616921
rs59616921
7 0.807 0.120 17 41571506 missense variant G/A snv 0.030 1.000 3 2009 2018
dbSNP: rs28940896
rs28940896
3 0.882 0.120 17 41571515 missense variant G/A;C snv 0.010 1.000 1 2003 2003
dbSNP: rs56707768
rs56707768
3 0.882 0.120 17 41571511 missense variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs57758262
rs57758262
2 0.925 0.120 17 41571505 missense variant C/G;T snv 0.010 1.000 1 2018 2018