Source: BEFREE ×
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 0.100 0.800 10 1999 2014
dbSNP: rs699
rs699
AGT
131 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.090 0.778 9 1997 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2005 2010
dbSNP: rs5355
rs5355
SELE ; C1orf112
14 0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02 0.020 0.500 2 2006 2014
dbSNP: rs61747728
rs61747728
NPHS2
18 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.020 1.000 2 2012 2013
dbSNP: rs1061170
rs1061170
CFH
69 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2009 2009
dbSNP: rs12137135
rs12137135 		2 0.925 0.080 1 22348728 intergenic variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs121913059
rs121913059
CFH
10 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.010 1.000 1 2009 2009
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 2001 2001
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 2011 2011
dbSNP: rs2802723
rs2802723
SDCCAG8
2 0.925 0.080 1 243335010 intron variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs379489
rs379489
CFH
3 0.851 0.200 1 196724321 intron variant A/G snv 0.65 0.010 1.000 1 2014 2014
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: rs74315342
rs74315342
NPHS2
7 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.010 1.000 1 2017 2017
dbSNP: rs7583877
rs7583877
AFF3
2 0.925 0.080 2 99844192 intron variant C/T snv 0.61 0.020 1.000 2 2012 2013
dbSNP: rs11571317
rs11571317
CTLA4
3 0.882 0.160 2 203867285 upstream gene variant C/T snv 5.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs121908525
rs121908525
AGXT
5 0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs121908529
rs121908529
AGXT
4 0.851 0.160 2 240871433 missense variant G/A;C snv 5.6E-04 0.010 1.000 1 2014 2014
dbSNP: rs1372834938
rs1372834938
KIDINS220
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 1.000 1 2009 2009
dbSNP: rs1516792
rs1516792
IL1A
2 0.925 0.080 2 112778356 intron variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs16347
rs16347
IL1A
2 0.925 0.080 2 112774138 3 prime UTR variant -/TGAA delins 0.70 0.010 1.000 1 2003 2003
dbSNP: rs16840252
rs16840252
CTLA4
8 0.776 0.480 2 203866796 upstream gene variant C/T snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs188942711
rs188942711
COL4A3 ; MFF-DT
9 0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 1.000 1 2014 2014
dbSNP: rs231775
rs231775
CTLA4
114 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2014 2014