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: rs17503908
rs17503908
ATM ; C11orf65
2 1.000 0.080 11 108344670 intron variant T/G snv 6.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs17817449
rs17817449
FTO
21 0.716 0.560 16 53779455 intron variant T/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs1799732
rs1799732
DRD2 ; LOC105369501
11 0.790 0.160 11 113475529 intron variant -/G delins 0.010 1.000 1 2009 2009
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2005 2005
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 2005 2005
dbSNP: rs1799977
rs1799977
MLH1
28 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2006 2006
dbSNP: rs1800497
rs1800497
ANKK1
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2009 2009
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 2005 2005
dbSNP: rs1927911
rs1927911
TLR4
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs2070959
rs2070959
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
16 0.742 0.320 2 233693545 missense variant A/G snv 0.31 0.30 0.010 1.000 1 2012 2012
dbSNP: rs2227999
rs2227999
XPC
1 3 14158408 missense variant C/T snv 4.2E-02 4.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs2276020
rs2276020
AIP ; MIR6752
2 1.000 0.120 11 67490085 missense variant C/G;T snv 3.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs2302615
rs2302615
ODC1 ; SNORA80B ; ODC1-DT
7 0.807 0.120 2 10448012 intron variant C/T snv 0.31 0.010 1.000 1 2011 2011
dbSNP: rs2720574
rs2720574
PDGFRL
1 8 17578682 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2838958
rs2838958
SLC19A1
3 1.000 0.080 21 45528653 intron variant G/A snv 0.45 0.010 1.000 1 2011 2011
dbSNP: rs2855798
rs2855798
KCNJ1 ; LOC107984409
1 11 128863066 intron variant G/T snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs2959656
rs2959656
MEN1 ; MAP4K2
5 0.851 0.160 11 64804546 missense variant T/C snv 0.94 0.90 0.010 1.000 1 2016 2016
dbSNP: rs370574590
rs370574590
PCSK9
2 1.000 0.080 1 55058628 missense variant G/A;T snv 3.2E-05; 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs371918069
rs371918069
GCM2
2 1.000 6 10874372 missense variant C/T snv 5.6E-05 5.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs3802842
rs3802842
COLCA2 ; COLCA1
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs3842787
rs3842787
PTGS1
11 0.776 0.200 9 122371228 missense variant C/T snv 5.9E-02 8.5E-02 0.010 < 0.001 1 2004 2004
dbSNP: rs386352319
rs386352319
KCNJ5
8 0.827 0.080 11 128911724 missense variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs386834263
rs386834263
CACNA1D
1 3 53673113 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2008 2008
dbSNP: rs4539
rs4539
CYP11B2 ; GML
4 0.925 0.080 8 142915123 missense variant T/C snv 0.42 0.38 0.010 1.000 1 2005 2005