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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2011 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 < 0.001 2 2011 2015
dbSNP: rs11265269
rs11265269 		1 1.000 0.080 1 159758337 upstream gene variant T/C snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs1938516
rs1938516
ERVMER61-1
2 0.925 0.120 1 187433789 intron variant T/A snv 5.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs2229569
rs2229569
SELL ; C1orf112
8 0.790 0.360 1 169704697 missense variant G/A;T snv 0.21; 3.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs3093059
rs3093059
CRP
11 0.752 0.520 1 159715346 upstream gene variant A/G snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs372271081
rs372271081
NBL1 ; MICOS10-NBL1
2 1.000 0.080 1 19647903 intron variant G/A snv 8.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs480414
rs480414
DDAH1
2 1.000 0.080 1 85461780 intron variant G/A snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs5174
rs5174
LRP8
10 0.776 0.240 1 53247055 missense variant C/T snv 0.29 0.28 0.010 1.000 1 2016 2016
dbSNP: rs5744168
rs5744168
TLR5
18 0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02 0.010 1.000 1 2012 2012
dbSNP: rs1344706
rs1344706
ZNF804A
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2709370
rs2709370 		4 0.851 0.120 2 207517878 intron variant A/C snv 0.17 0.010 < 0.001 1 2018 2018
dbSNP: rs3771150
rs3771150
IL18RAP
1 1.000 0.080 2 102444391 intron variant G/A snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs3771171
rs3771171
IL18R1
2 1.000 0.080 2 102369490 intron variant T/C snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs6721961
rs6721961
NFE2L2
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 1.000 1 2015 2015
dbSNP: rs6746896
rs6746896 		4 0.851 0.120 2 96745212 intergenic variant A/G snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs6785
rs6785
CREB1 ; METTL21A
4 0.851 0.120 2 207603273 3 prime UTR variant A/G snv 0.84 0.010 1.000 1 2018 2018
dbSNP: rs7597593
rs7597593
ZNF804A
6 0.827 0.160 2 184668853 intron variant T/C snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs1457319153
rs1457319153
DAG1
1 1.000 0.080 3 49531991 missense variant A/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2251219
rs2251219
PBRM1 ; SMIM4
14 0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34 0.010 1.000 1 2017 2017
dbSNP: rs9836592
rs9836592
CHDH
2 0.925 0.120 3 53821056 intron variant C/T snv 0.74 0.010 1.000 1 2017 2017
dbSNP: rs1440306
rs1440306
LOC107986306
1 1.000 0.080 4 116954105 upstream gene variant T/A;G snv 0.800 1.000 1 2013 2013
dbSNP: rs4576072
rs4576072
KDR
3 0.882 0.200 4 55120071 intron variant T/C snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs5743827
rs5743827
TLR1 ; TLR6
1 1.000 0.080 4 38825904 3 prime UTR variant C/T snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs187269
rs187269
GABRB2
6 0.827 0.160 5 161329618 3 prime UTR variant A/G snv 0.34 0.010 1.000 1 2009 2009