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: rs1163350491
rs1163350491
OCM
1 1.000 0.120 7 5880922 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1185926926
rs1185926926
SLC19A1
1 1.000 0.120 21 45531748 missense variant A/G snv 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs11943456
rs11943456
TMEM165
18 0.708 0.320 4 55410167 intron variant T/C snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs1207011218
rs1207011218
CTLA4
12 0.742 0.440 2 203870794 synonymous variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs121913338
rs121913338
BRAF
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.010 1.000 1 2003 2003
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs121913357
rs121913357
BRAF
12 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.010 1.000 1 2003 2003
dbSNP: rs121913499
rs121913499
IDH1
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.010 1.000 1 2009 2009
dbSNP: rs1250480918
rs1250480918
SLC19A1
1 1.000 0.120 21 45537803 synonymous variant G/A snv 4.6E-06 0.010 1.000 1 2015 2015
dbSNP: rs1256046734
rs1256046734
LEPR
12 0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1270942
rs1270942
CFB ; CYP21A2
11 0.742 0.440 6 31951083 non coding transcript exon variant A/G snv 7.5E-02 0.010 1.000 1 2009 2009
dbSNP: rs12711521
rs12711521
MASP2 ; TARDBP
7 0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63 0.010 1.000 1 2013 2013
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2012 2012
dbSNP: rs13113
rs13113
CASP8
2 0.925 0.200 2 201287439 3 prime UTR variant T/A snv 0.33 0.010 1.000 1 2007 2007
dbSNP: rs1314305899
rs1314305899
NOS3
6 0.807 0.280 7 151003224 missense variant C/T snv 7.9E-06 2.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs13178127
rs13178127
XRCC4
1 1.000 0.120 5 83293613 intron variant A/G snv 3.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs1320767909
rs1320767909
SLC19A1
1 1.000 0.120 21 45531982 missense variant A/G snv 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs13306698
rs13306698
PON1
3 0.882 0.240 7 95311470 missense variant T/C snv 6.0E-03 1.9E-03 0.010 1.000 1 2018 2018
dbSNP: rs1335035506
rs1335035506
SHMT1
1 1.000 0.120 17 18340207 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs1353759920
rs1353759920
TP73
4 0.851 0.120 1 3707593 missense variant C/A snv 2.1E-05 0.010 1.000 1 2004 2004
dbSNP: rs13706
rs13706
CDC6
11 0.776 0.200 17 40300899 missense variant G/A;C snv 0.15; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1401417
rs1401417
CRY2
3 0.882 0.160 11 45858559 intron variant C/G snv 0.19 0.010 1.000 1 2009 2009
dbSNP: rs1447708158
rs1447708158
RAF1
1 1.000 0.120 3 12604160 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
23 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2004 2004