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: rs2383206
rs2383206
CDKN2B-AS1
17 0.742 0.320 9 22115027 intron variant A/G snv 0.49 0.010 1.000 1 2012 2012
dbSNP: rs1049550
rs1049550
ANXA11
4 0.882 0.160 10 80166946 missense variant G/A;C snv 0.42; 4.2E-06 0.010 1.000 1 2014 2014
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs10846744
rs10846744
SCARB1
11 0.763 0.160 12 124827879 intron variant G/C snv 0.32 0.030 1.000 3 2010 2018
dbSNP: rs1058322
rs1058322
ADIPOR2
2 1.000 0.040 12 1727813 intron variant C/T snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs11061937
rs11061937
ADIPOR2
2 1.000 0.040 12 1707447 intron variant T/C snv 0.31 0.010 1.000 1 2011 2011
dbSNP: rs16928751
rs16928751
ADIPOR2
3 0.925 0.120 12 1781033 synonymous variant G/A snv 0.11 0.14 0.010 1.000 1 2011 2011
dbSNP: rs3751142
rs3751142
P2RX7 ; LOC105370032
1 1.000 0.040 12 121184616 synonymous variant G/T snv 0.14 0.12 0.010 1.000 1 2016 2016
dbSNP: rs11571836
rs11571836
BRCA2
6 0.827 0.200 13 32399302 3 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs121964941
rs121964941
F10
2 0.925 0.120 13 113149170 missense variant T/C snv 0.010 1.000 1 1996 1996
dbSNP: rs1799943
rs1799943
BRCA2
5 0.925 0.080 13 32316435 5 prime UTR variant G/A;C;T snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs3211719
rs3211719
F10
1 1.000 0.040 13 113123195 intron variant A/G snv 0.21 0.010 1.000 1 2008 2008
dbSNP: rs9540488
rs9540488 		1 1.000 0.040 13 65614315 intergenic variant C/T snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs9540493
rs9540493 		3 1.000 0.040 13 65631572 intergenic variant A/G snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs72653744
rs72653744
ABCC6
14 0.807 0.320 16 16163009 stop gained G/A snv 1.7E-04 1.2E-04 0.010 1.000 1 2001 2001
dbSNP: rs2043211
rs2043211
CARD8
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.010 1.000 1 2016 2016
dbSNP: rs28933385
rs28933385
PRNP
25 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2000 2000