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: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2010 2010
dbSNP: rs781230344
rs781230344
RIMS2
2 1.000 0.080 8 104014559 missense variant C/G snv 4.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2004 2004
dbSNP: rs1801673
rs1801673
ATM
3 0.882 0.120 11 108304736 missense variant A/T snv 4.9E-03 4.4E-03 0.010 1.000 1 2004 2004
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: rs462779
rs462779
REV3L ; MFSD4B
4 0.851 0.120 6 111374684 missense variant G/A snv 0.72 0.67 0.010 1.000 1 2012 2012
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.020 1.000 2 2002 2015
dbSNP: rs2705535
rs2705535
BTLA
1 1.000 0.080 3 112490080 intron variant C/T snv 8.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs776197565
rs776197565
APC
5 0.827 0.120 5 112819214 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2010 2010
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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.060 0.833 6 2005 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2005 2015
dbSNP: rs3753584
rs3753584
CLCN6 ; MTHFR
10 0.827 0.080 1 11804529 5 prime UTR variant T/C snv 0.14 0.010 1.000 1 2017 2017
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: rs1800449
rs1800449
LOX
33 0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 0.010 1.000 1 2016 2016
dbSNP: rs1801726
rs1801726
CASR
13 0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92 0.010 1.000 1 2010 2010
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: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 0.500 2 2005 2010
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 0.500 2 2005 2010
dbSNP: rs9637365
rs9637365
TXNRD3
1 1.000 0.080 3 126651323 intron variant T/C snv 0.48 0.010 1.000 1 2012 2012
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: rs2632159
rs2632159
PCAT1 ; LOC105375751
3 0.882 0.080 8 127021159 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs2853668
rs2853668 		5 0.882 0.080 5 1299910 upstream gene variant G/T snv 0.33 0.010 1.000 1 2013 2013