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 0.030 0.333 3 2004 2015
dbSNP: rs7538876
rs7538876
PADI6
6 0.807 0.120 1 17395867 intron variant G/A snv 0.37 0.700 1.000 2 2008 2014
dbSNP: rs801114
rs801114 		5 0.827 0.120 1 228862088 downstream gene variant T/G snv 0.48 0.700 1.000 2 2008 2014
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2007 2007
dbSNP: rs13014235
rs13014235
FLACC1
5 0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63 0.010 1.000 1 2017 2017
dbSNP: rs2303425
rs2303425
MSH2
8 0.790 0.120 2 47403074 5 prime UTR variant T/C snv 0.10 0.010 < 0.001 1 2018 2018
dbSNP: rs3769823
rs3769823
CASP8
6 0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65 0.010 1.000 1 2017 2017
dbSNP: rs700635
rs700635
FLACC1
3 0.925 0.040 2 201288502 3 prime UTR variant C/A snv 0.72 0.010 1.000 1 2016 2016
dbSNP: rs121913403
rs121913403
CTNNB1
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs869025212
rs869025212
BAP1
6 0.827 0.200 3 52403428 frameshift variant G/- delins 0.700 1.000 1 2015 2015
dbSNP: rs142310826
rs142310826 		3 1.000 0.040 4 178481702 intergenic variant T/A snv 1.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.740 1.000 6 2009 2017
dbSNP: rs16891982
rs16891982
SLC45A2
13 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 0.010 1.000 1 2009 2009
dbSNP: rs893729101
rs893729101
CLPTM1L
2 1.000 0.040 5 1341708 missense variant T/C snv 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs137853214
rs137853214
CCNH ; RASA1
2 0.925 0.040 5 87349304 missense variant G/T snv 0.700 0
dbSNP: rs137853215
rs137853215
CCNH ; RASA1
2 0.925 0.040 5 87349309 missense variant A/G snv 0.700 0
dbSNP: rs137853216
rs137853216
CCNH ; RASA1
2 0.925 0.040 5 87349312 missense variant A/G snv 0.700 0
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.030 1.000 3 2011 2019
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.020 1.000 2 2011 2017
dbSNP: rs12202284
rs12202284
LOC105374875
3 0.925 0.080 6 471136 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs12210050
rs12210050
LOC105374875
8 0.807 0.040 6 475489 non coding transcript exon variant C/T snv 0.11 0.710 1.000 1 2011 2011
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.010 1.000 1 2017 2017