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 0.080 0.875 8 2006 2014
dbSNP: rs1625579
rs1625579
MIR137HG
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.720 1.000 3 2012 2013
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2007 2008
dbSNP: rs4650608
rs4650608 		7 0.851 0.040 1 78772330 intergenic variant T/C snv 0.29 0.800 1.000 3 2013 2014
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2008 2014
dbSNP: rs821616
rs821616
DISC1 ; TSNAX-DISC1
13 0.752 0.200 1 232008852 missense variant A/T snv 0.26 0.29 0.020 1.000 2 2011 2012
dbSNP: rs10462020
rs10462020
PER3
2 0.925 0.160 1 7820623 missense variant T/G snv 0.17 0.16 0.010 1.000 1 2017 2017
dbSNP: rs10489167
rs10489167
NFYC
1 1.000 0.040 1 40710794 intron variant G/A snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs10489744
rs10489744
RXRG
2 0.925 0.040 1 165411386 intron variant G/A snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs10494251
rs10494251
BCL9
4 0.851 0.040 1 147552120 intron variant C/T snv 5.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs10889182
rs10889182
LINC01748
1 1.000 0.040 1 60532523 intron variant T/G snv 0.33 0.700 1.000 1 2013 2013
dbSNP: rs10889187
rs10889187
LINC01748
1 1.000 0.040 1 60545086 intron variant G/A snv 0.33 0.700 1.000 1 2013 2013
dbSNP: rs10889189
rs10889189
LINC01748
1 1.000 0.040 1 60559354 intron variant C/G snv 0.47 0.700 1.000 1 2013 2013
dbSNP: rs11162556
rs11162556 		2 0.925 0.040 1 78795698 intergenic variant A/G snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs11207633
rs11207633
LINC01748
1 1.000 0.040 1 60541510 non coding transcript exon variant A/G snv 0.32 0.700 1.000 1 2013 2013
dbSNP: rs1125777
rs1125777
NFIA
1 1.000 0.040 1 61366218 intron variant C/T snv 0.42 0.800 1.000 1 2013 2013
dbSNP: rs115777110
rs115777110
LOC107985255
3 0.882 0.040 1 208936211 intergenic variant T/C snv 1.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs11805078
rs11805078
ATP1A1
1 1.000 0.040 1 116381693 intron variant C/T snv 8.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs1194897557
rs1194897557
MTHFR
7 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12144699
rs12144699
HSD52 ; LINC01358
1 1.000 0.040 1 59139525 intron variant G/A snv 2.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs12563333
rs12563333
LINC02779
1 1.000 0.040 1 220484892 downstream gene variant C/T snv 3.7E-02 0.800 1.000 1 2011 2011
dbSNP: rs12568010
rs12568010
NFIA
1 1.000 0.040 1 61366266 intron variant A/G snv 9.8E-02 0.800 1.000 1 2013 2013
dbSNP: rs146330533
rs146330533
ARHGEF10L
3 0.882 0.040 1 17669971 intron variant G/A snv 1.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs150404479
rs150404479
EBNA1BP2 ; CFAP57 ; LOC105378685
2 1.000 0.040 1 43222879 missense variant T/C snv 9.1E-03 9.8E-03 0.700 1.000 1 2014 2014
dbSNP: rs1541187
rs1541187
BCL9
3 0.882 0.040 1 147579693 intron variant C/G;T snv 0.010 1.000 1 2011 2011