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: rs1127354
rs1127354
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.900 0.900 20 2010 2020
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: 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: rs7270101
rs7270101
10 0.776 0.200 20 3213247 intron variant A/C snv 8.7E-02 9.7E-02 0.070 0.857 7 2011 2018
dbSNP: rs6051702
rs6051702
3 0.882 0.120 20 3271278 intron variant A/C snv 0.19 0.040 1.000 4 2013 2020
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2006 2015
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 1997 2018
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 1.000 3 2009 2018
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.030 1.000 3 2007 2010
dbSNP: rs760370
rs760370
3 0.925 0.120 6 44233216 intron variant A/G snv 0.36 0.030 0.333 3 2015 2017
dbSNP: rs104894815
rs104894815
9 0.776 0.120 X 48792337 missense variant G/A snv 0.020 1.000 2 2000 2012
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.020 1.000 2 2012 2020