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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.060 0.833 6 2005 2017
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 0.667 3 2015 2015
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2017 2018
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 0.500 2 2005 2010
dbSNP: rs3802842
rs3802842
COLCA2 ; COLCA1
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.020 1.000 2 2010 2010
dbSNP: rs4939827
rs4939827
SMAD7
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.020 1.000 2 2012 2016
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2017 2018
dbSNP: rs10484879
rs10484879
IL17A
5 0.827 0.160 6 52187159 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1061624
rs1061624
TNFRSF1B
8 0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs10795668
rs10795668
LOC105376400
17 0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24 0.010 1.000 1 2010 2010
dbSNP: rs10857561
rs10857561
MAPK8
1 1.000 0.080 10 48400595 intron variant G/A snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs10889675
rs10889675
IL23R
2 1.000 0.080 1 67256533 intron variant C/A snv 0.11 0.010 1.000 1 2012 2012
dbSNP: rs11247735
rs11247735
SELENON
1 1.000 0.080 1 25804968 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1143623
rs1143623
IL1B
29 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs11536898
rs11536898
TLR4
3 0.882 0.080 9 117717932 3 prime UTR variant C/A snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 1.000 1 2007 2007
dbSNP: rs11718498
rs11718498
TXNRD3
1 1.000 0.080 3 126654076 intron variant G/A snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs11721827
rs11721827
TLR3
4 0.851 0.200 4 186069983 intron variant A/C snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs12733285
rs12733285
ADIPOR1
12 0.776 0.120 1 202952912 intron variant C/T snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs1342387
rs1342387
ADIPOR1
12 0.776 0.120 1 202945228 intron variant T/C snv 0.53 0.010 1.000 1 2011 2011
dbSNP: rs14035
rs14035
RAN
15 0.742 0.320 12 130876696 3 prime UTR variant C/T snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs1525489
rs1525489 		1 1.000 0.080 7 122993419 downstream gene variant A/G snv 3.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs17026425
rs17026425
IQCM
4 0.882 0.080 4 149751362 intron variant G/A snv 4.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs17239025
rs17239025 		1 1.000 0.080 13 30765768 downstream gene variant G/C snv 4.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs17268122
rs17268122
ABCC4
2 1.000 0.080 13 95192240 intron variant G/A;C;T snv 0.010 1.000 1 2017 2017