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: rs1042821
rs1042821
MSH6
16 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 0.020 1.000 2 2009 2009
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs147198552
rs147198552
CXCR4
3 0.882 0.080 2 136115450 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs16840252
rs16840252
CTLA4
8 0.776 0.480 2 203866796 upstream gene variant C/T snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs1724120
rs1724120
DUSP2 ; ASTL
2 0.925 0.080 2 96143592 3 prime UTR variant T/C snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs1801278
rs1801278
IRS1
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.010 1.000 1 2004 2004
dbSNP: rs1967327
rs1967327
PRKRA ; PJVK
2 0.925 0.080 2 178449632 intron variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2059691
rs2059691
PRKRA ; CHROMR
3 0.882 0.080 2 178437157 intron variant A/G snv 0.72 0.010 1.000 1 2017 2017
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 2018 2018
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs4987188
rs4987188
MSH2
11 0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05 0.010 < 0.001 1 2017 2017
dbSNP: rs536562413
rs536562413
MSH6 ; FBXO11
15 0.732 0.240 2 47799934 missense variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs587780669
rs587780669
MSH6 ; FBXO11
2 0.925 0.080 2 47798999 missense variant C/A;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs63750875
rs63750875
MSH2
15 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs730881756
rs730881756
MSH2
2 0.925 0.080 2 47445653 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs910532454
rs910532454
CXCR4
4 0.882 0.080 2 136115453 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.040 0.500 4 2003 2013
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.040 0.750 4 2005 2017
dbSNP: rs876658657
rs876658657
MLH1
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.040 0.750 4 2008 2017
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.030 0.667 3 2005 2010
dbSNP: rs10934578
rs10934578
CASR
4 0.925 0.080 3 122258435 intron variant G/T snv 0.30 0.020 1.000 2 2008 2017
dbSNP: rs10222633
rs10222633
CASR
4 0.925 0.080 3 122258079 intron variant G/A snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs1042636
rs1042636
CASR
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs11923427
rs11923427
RAF1
2 0.925 0.080 3 12622336 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121913273
rs121913273
PIK3CA
44 0.605 0.440 3 179218294 missense variant G/A;C snv 0.010 1.000 1 2018 2018