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: 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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2007 2012
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2016 2016
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: 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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2012 2012
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: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs12041331
rs12041331
PEAR1
11 0.776 0.200 1 156899922 intron variant G/A snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs12188950
rs12188950
PDE4D ; PART1
2 0.925 0.120 5 60487490 intron variant C/T snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2007 2007
dbSNP: rs121964941
rs121964941
F10
2 0.925 0.120 13 113149170 missense variant T/C snv 0.010 1.000 1 1996 1996
dbSNP: rs16844364
rs16844364
RGS12
1 1.000 0.040 4 3436916 intron variant G/A snv 0.20 0.010 1.000 1 2015 2015
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: 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: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 1999 1999
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2010 2010
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 1999 1999
dbSNP: rs1801160
rs1801160
DPYD ; DPYD-AS1
6 0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02 0.010 1.000 1 2016 2016
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: rs2187952
rs2187952
F5
1 1.000 0.040 1 169512712 3 prime UTR variant G/A snv 0.26 0.010 1.000 1 2008 2008
dbSNP: rs2297595
rs2297595
DPYD
10 0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 0.010 1.000 1 2016 2016