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: rs113993959
rs113993959
25 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
dbSNP: rs121908752
rs121908752
4 0.851 0.160 7 117535285 missense variant T/G snv 1.9E-04 1.3E-04 0.700 0
dbSNP: rs121908753
rs121908753
4 0.851 0.160 7 117540285 missense variant G/A snv 2.4E-05 0.700 0
dbSNP: rs121908759
rs121908759
5 0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04 0.700 0
dbSNP: rs121908761
rs121908761
4 0.851 0.160 7 117611717 stop gained C/A;G snv 1.2E-05 0.700 0
dbSNP: rs121908792
rs121908792
4 0.851 0.160 7 117530898 splice acceptor variant G/A;C;T snv 1.6E-05 0.700 0
dbSNP: rs121908799
rs121908799
4 0.851 0.160 7 117592218 frameshift variant AA/G delins 0.700 0
dbSNP: rs121908802
rs121908802
4 0.851 0.160 7 117535263 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs121909005
rs121909005
5 0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs121909011
rs121909011
6 0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05 0.700 0
dbSNP: rs121909017
rs121909017
4 0.851 0.160 7 117559546 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs193922500
rs193922500
5 0.851 0.160 7 117548798 missense variant T/C snv 2.0E-04 4.9E-05 0.700 0
dbSNP: rs267606723
rs267606723
5 0.827 0.200 7 117642451 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs397508266
rs397508266
4 0.851 0.160 7 117589467 intron variant A/G snv 2.8E-05 0.700 0
dbSNP: rs397508464
rs397508464
4 0.851 0.160 7 117530918 missense variant A/C;G snv 8.0E-06 0.700 0
dbSNP: rs397508759
rs397508759
4 0.851 0.160 7 117534363 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs397508778
rs397508778
4 0.851 0.160 7 117535326 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs61759921
rs61759921
1 1.000 0.040 16 23371460 missense variant G/A snv 6.0E-05 7.7E-05 0.700 0
dbSNP: rs72654338
rs72654338
1 1.000 0.040 16 23367959 missense variant G/A;T snv 7.2E-05 0.700 0
dbSNP: rs74551128
rs74551128
8 0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 0.700 0
dbSNP: rs74597325
rs74597325
18 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
dbSNP: rs75039782
rs75039782
4 0.851 0.160 7 117639961 intron variant C/G;T snv 0.700 0
dbSNP: rs75096551
rs75096551
4 0.851 0.160 7 117606754 splice donor variant G/A;C;T snv 1.0E-04 2.9E-04 0.700 0
dbSNP: rs75527207
rs75527207
15 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.700 0
dbSNP: rs77010898
rs77010898
13 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.700 0