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: rs149840192
rs149840192
7 0.807 0.080 7 55154129 missense variant C/A;T snv 0.710 1.000 2 2016 2018
dbSNP: rs723527
rs723527
4 0.882 0.040 7 55067179 intron variant A/G snv 0.53 0.700 1.000 2 2017 2018
dbSNP: rs1057519887
rs1057519887
3 0.925 0.040 7 55154128 missense variant GC/AA;AT mnv 0.700 1.000 1 2016 2016
dbSNP: rs1057519888
rs1057519888
3 0.925 0.080 7 55143386 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs11979158
rs11979158
5 0.882 0.040 7 55091656 intron variant A/G;T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs121913428
rs121913428
6 0.827 0.120 7 55174015 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs139236063
rs139236063
3 0.925 0.080 7 55165350 missense variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs28929495
rs28929495
9 0.807 0.120 7 55174014 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs59060240
rs59060240
4 0.882 0.040 7 55080369 intron variant AA/-;A;AAA;AAAA;AAAAAAAAAAA delins 0.700 1.000 1 2015 2015
dbSNP: rs769696078
rs769696078
3 0.925 0.040 7 55154128 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs121913444
rs121913444
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs9642393
rs9642393
2 0.925 0.040 7 55177954 intron variant T/C snv 0.24 0.010 1.000 1 2013 2013