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: rs137853077
rs137853077
1 1.000 0.160 19 1207113 missense variant T/C snv 0.810 1.000 1 1998 2019
dbSNP: rs1057520041
rs1057520041
1 1.000 0.160 19 1220438 missense variant T/A snv 0.710 1.000 1 2003 2003
dbSNP: rs1131690940
rs1131690940
1 1.000 0.160 19 1220641 stop gained C/T snv 0.710 1.000 1 1998 2015
dbSNP: rs137853083
rs137853083
1 1.000 0.160 19 1221216 stop gained C/G;T snv 4.0E-06 0.710 1.000 1 2004 2004
dbSNP: rs587776661
rs587776661
1 1.000 0.160 19 1221976 frameshift variant G/- delins 0.710 1.000 1 2019 2019
dbSNP: rs1085307466
rs1085307466
3 1.000 0.160 19 1221990 stop gained C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs730881984
rs730881984
1 1.000 0.160 19 1221977 missense variant G/A;T snv 5.6E-06 0.010 1.000 1 2019 2019