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: rs1057519669
rs1057519669
4 0.925 0.080 19 11113347 missense variant A/G snv 0.700 0
dbSNP: rs1057519670
rs1057519670
4 0.925 0.080 19 11113406 missense variant A/T snv 0.700 0
dbSNP: rs1057519673
rs1057519673
4 0.925 0.080 19 11113705 frameshift variant C/- del 0.700 0
dbSNP: rs1060500986
rs1060500986
3 1.000 0.080 19 11111628 missense variant G/A snv 0.700 0
dbSNP: rs1131692203
rs1131692203
3 1.000 0.080 19 11111534 missense variant C/T snv 0.700 0
dbSNP: rs1131692204
rs1131692204
3 1.000 0.080 19 11111567 stop gained G/T snv 0.700 0
dbSNP: rs1131692205
rs1131692205
3 1.000 0.080 19 11111583 frameshift variant G/- del 0.700 0
dbSNP: rs1131692206
rs1131692206
3 1.000 0.080 19 11113510 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs1131692207
rs1131692207
3 1.000 0.080 19 11113588 missense variant G/A snv 0.700 0
dbSNP: rs1131692208
rs1131692208
4 0.925 0.160 19 11113603 missense variant C/T snv 0.700 0
dbSNP: rs1131692209
rs1131692209
3 1.000 0.080 19 11113632 frameshift variant A/- del 0.700 0
dbSNP: rs1131692210
rs1131692210
3 1.000 0.080 19 11113706 frameshift variant G/- del 0.700 0
dbSNP: rs1131692211
rs1131692211
3 1.000 0.080 19 11113742 frameshift variant C/- del 0.700 0
dbSNP: rs1131692212
rs1131692212
3 1.000 0.080 19 11113743 inframe deletion TGG/- delins 0.700 0
dbSNP: rs121908043
rs121908043
5 0.882 0.080 19 11113307 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs13306498
rs13306498
3 1.000 0.080 19 11113285 synonymous variant C/T snv 1.7E-03 1.4E-03 0.700 0
dbSNP: rs137943601
rs137943601
6 0.851 0.120 19 11113313 missense variant G/A;C snv 8.0E-06 0.700 0
dbSNP: rs139066906
rs139066906
3 1.000 0.080 19 11111620 synonymous variant G/A snv 1.2E-04 5.2E-04 0.700 0
dbSNP: rs139617694
rs139617694
6 0.851 0.080 19 11113534 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs139624145
rs139624145
4 0.925 0.080 19 11113620 missense variant G/A;C;T snv 4.0E-05 0.700 0
dbSNP: rs144614838
rs144614838
5 0.882 0.080 19 11113608 missense variant G/A;T snv 2.8E-05 2.8E-05 0.700 0
dbSNP: rs28942078
rs28942078
7 0.827 0.080 19 11113376 missense variant G/A;C;T snv 1.2E-05 0.700 0
dbSNP: rs28942079
rs28942079
4 0.925 0.080 19 11113382 missense variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs28942080
rs28942080
8 0.807 0.200 19 11113743 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs368889457
rs368889457
3 1.000 0.080 19 11113679 synonymous variant G/A snv 3.2E-05 7.7E-05 0.700 0