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: rs1057520529
rs1057520529
5 0.851 0.320 X 49251440 missense variant C/T snv 0.700 0
dbSNP: rs1114167422
rs1114167422
11 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
dbSNP: rs121912651
rs121912651
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1441937959
rs1441937959
20 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 0.700 0
dbSNP: rs1555889984
rs1555889984
5 0.925 0.120 21 34834536 stop gained C/A snv 0.700 0
dbSNP: rs28936375
rs28936375
15 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.700 0
dbSNP: rs768849283
rs768849283
7 0.882 0.040 10 70600517 missense variant C/G snv 6.8E-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: rs771063992
rs771063992
7 0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05 0.700 0
dbSNP: rs28936072
rs28936072
4 0.851 0.200 X 154765472 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs121918544
rs121918544
7 0.827 0.200 14 24240635 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1057517674
rs1057517674
2 0.925 0.040 1 11676926 missense variant A/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1374309197
rs1374309197
1 1.000 0.040 15 43492016 missense variant T/A;C snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs878855337
rs878855337
2 0.925 0.120 7 93132385 missense variant C/G snv 0.010 1.000 1 2016 2016
dbSNP: rs774568856
rs774568856
4 0.882 0.200 6 83174481 missense variant A/G snv 1.7E-05 7.0E-06 0.010 1.000 1 2017 2017