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 0.050 1.000 5 2005 2019
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.040 1.000 4 2000 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2005 2019
dbSNP: rs1933182
rs1933182 		3 1.000 0.080 1 109457216 intergenic variant A/C snv 0.63 0.700 1.000 2 2010 2012
dbSNP: rs267734
rs267734 		7 0.925 0.120 1 150979001 upstream gene variant T/C snv 0.14 0.700 1.000 2 2010 2012
dbSNP: rs2808630
rs2808630 		13 0.742 0.240 1 159711078 downstream gene variant C/T snv 0.77 0.020 0.500 2 2010 2011
dbSNP: rs12124078
rs12124078
DNAJC16
3 1 15543404 intron variant A/G snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs12134854
rs12134854
SLC44A5
2 1.000 0.080 1 75671921 intron variant T/C snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs1464816
rs1464816
REN
2 1.000 0.120 1 204159726 intron variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs17384213
rs17384213
DDAH1
1 1 85418938 intron variant G/A snv 0.13 0.010 1.000 1 2010 2010
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2013 2013
dbSNP: rs28415528
rs28415528
THEM4
2 1.000 0.080 1 151907285 intron variant G/A snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs3093058
rs3093058
CRP
2 1 159715525 upstream gene variant T/A;C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs371237692
rs371237692
REN
5 0.925 0.120 1 204159515 synonymous variant A/G snv 8.0E-06 3.5E-05 0.010 1.000 1 2012 2012
dbSNP: rs4845625
rs4845625
IL6R
9 0.851 0.080 1 154449591 intron variant T/C snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs515299
rs515299
CFH
4 0.925 0.080 1 196737547 missense variant G/A;C;T snv 4.8E-05; 1.7E-02 0.010 1.000 1 2005 2005
dbSNP: rs6330
rs6330
NGF ; NGF-AS1
12 0.763 0.240 1 115286692 missense variant G/A snv 0.37 0.36 0.010 1.000 1 2015 2015
dbSNP: rs6428106
rs6428106
LOC105371664
1 1 192585301 intron variant G/T snv 0.14 0.700 1.000 1 2011 2011
dbSNP: rs6587640
rs6587640
S100A10
2 1.000 0.080 1 151982754 downstream gene variant C/T snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs6657658
rs6657658 		2 1.000 0.080 1 151967388 regulatory region variant T/C snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs76963882
rs76963882
SLC44A5
2 1.000 0.080 1 75702239 intron variant T/C snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs770084716
rs770084716
SDCCAG8
3 1.000 1 243330591 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.800 1.000 3 2010 2018
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.710 1.000 3 2010 2014
dbSNP: rs13538
rs13538
NAT8 ; ALMS1P1
5 1.000 0.080 2 73641201 missense variant A/G snv 0.21 0.31 0.700 1.000 2 2010 2012