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: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.800 1.000 20 2006 2019
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.760 1.000 7 2006 2019
dbSNP: rs121913273
rs121913273
44 0.605 0.440 3 179218294 missense variant G/A;C snv 0.730 1.000 3 2014 2019
dbSNP: rs397517201
rs397517201
16 0.732 0.240 3 179218307 missense variant A/C;G;T snv 0.700 1.000 1 2006 2006
dbSNP: rs1057519927
rs1057519927
19 0.716 0.240 3 179218295 missense variant A/C;G;T snv 0.700 0
dbSNP: rs121913281
rs121913281
37 0.623 0.520 3 179234296 missense variant C/T snv 0.700 0
dbSNP: rs121913286
rs121913286
23 0.677 0.280 3 179218306 missense variant C/A;G snv 0.700 0
dbSNP: rs1560137609
rs1560137609
2 0.925 0.080 3 179199743 frameshift variant -/T delins 0.700 0
dbSNP: rs17849071
rs17849071
8 0.776 0.160 3 179218439 intron variant T/G snv 7.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs17849079
rs17849079
3 0.882 0.120 3 179234232 synonymous variant C/T snv 2.1E-02 1.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs2699887
rs2699887
11 0.763 0.280 3 179148620 intron variant C/T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs587777790
rs587777790
14 0.732 0.280 3 179199690 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs6443624
rs6443624
8 0.776 0.200 3 179179886 intron variant C/A snv 0.30 0.010 1.000 1 2018 2018