Source: ALL
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: rs1057516674
rs1057516674
5 0.882 0.160 17 42901026 frameshift variant GT/- del 0.700 0
dbSNP: rs1057520529
rs1057520529
5 0.851 0.320 X 49251440 missense variant C/T snv 0.700 0
dbSNP: rs1060499688
rs1060499688
4 0.882 0.200 12 101753399 missense variant A/G snv 0.700 0
dbSNP: rs1114167422
rs1114167422
11 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
dbSNP: rs1554544862
rs1554544862
1 1.000 0.040 8 41694003 frameshift variant TGGAACTTCCGGCGCCGGGG/- delins 0.700 0
dbSNP: rs33950507
rs33950507
HBB
8 0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 0.700 0
dbSNP: rs41469945
rs41469945
3 0.925 0.080 16 173581 missense variant T/C;G snv 0.700 0
dbSNP: rs747506979
rs747506979
GBA
4 0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05 0.700 0
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.700 0
dbSNP: rs878853314
rs878853314
GBA
5 0.882 0.240 1 155239655 missense variant C/G snv 0.700 0
dbSNP: rs878853315
rs878853315
GBA
5 0.925 0.160 1 155236292 missense variant G/C snv 0.700 0
dbSNP: rs1559810905
rs1559810905
9 0.827 0.240 2 162273810 missense variant T/A snv 0.700 1.000 1 2020 2020
dbSNP: rs776035233
rs776035233
5 0.882 0.120 16 67940230 missense variant C/T snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs779114194
rs779114194
4 0.925 0.120 16 67940017 missense variant T/C snv 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs987710
rs987710
4 1.000 0.040 22 22158022 intron variant G/A snv 0.61 0.700 1.000 1 2011 2011
dbSNP: rs10132552
rs10132552
3 1.000 0.040 14 100834675 non coding transcript exon variant T/C snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs104894808
rs104894808
4 0.851 0.120 X 48792376 missense variant G/T snv 0.010 1.000 1 2002 2002
dbSNP: rs104894816
rs104894816
6 0.827 0.120 X 48792377 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs1050828
rs1050828
15 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs1050829
rs1050829
5 0.827 0.160 X 154535277 missense variant T/A;C snv 1.7E-04; 2.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs10761745
rs10761745
3 0.882 0.240 10 63341311 intron variant G/C snv 0.87 0.010 1.000 1 2017 2017
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2015 2015
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2016 2016
dbSNP: rs11549465
rs11549465
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2013 2013