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 0.820 1.000 4 2005 2016
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.800 1.000 2 2005 2005
dbSNP: rs121913272
rs121913272
13 0.752 0.400 3 179210192 missense variant T/C;G snv 0.700 1.000 2 2005 2005
dbSNP: rs772110575
rs772110575
7 0.807 0.160 3 179198938 missense variant G/A;T snv 4.0E-06 0.700 1.000 2 2005 2005
dbSNP: rs1057519925
rs1057519925
25 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
dbSNP: rs1057519930
rs1057519930
1 1.000 0.080 3 179199142 missense variant G/T snv 0.700 0
dbSNP: rs121913273
rs121913273
44 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 0
dbSNP: rs121913274
rs121913274
33 0.645 0.320 3 179218304 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: rs121913283
rs121913283
16 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs121913286
rs121913286
23 0.677 0.280 3 179218306 missense variant C/A;G snv 0.700 0
dbSNP: rs141178472
rs141178472
2 0.925 0.080 3 179234393 3 prime UTR variant T/C snv 3.0E-03 3.3E-03 0.010 1.000 1 2015 2015
dbSNP: rs2699887
rs2699887
11 0.763 0.280 3 179148620 intron variant C/T snv 0.18 0.010 < 0.001 1 2015 2015