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: rs1057519724
rs1057519724
2 10 87933236 missense variant G/T snp 0.700 4 1999 2010
dbSNP: rs121909219
rs121909219
7 0.821 0.250 10 87957915 stop gained C/T snp 0.700 4 1999 2010
dbSNP: rs121913289
rs121913289
4 1.000 0.071 10 87958018 frameshift variant AA/A in-del 0.700 4 1999 2010
dbSNP: rs121909224
rs121909224
17 0.692 0.464 10 87933147 stop gained C/G,T snp 1.2E-05 0.700 1 2016 2016
dbSNP: rs121909229
rs121909229
15 0.692 0.321 10 87933148 missense variant G/A,C,T snp 0.700 1 2016 2016