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: rs1359880314
rs1359880314
SLC19A1
12 0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05 0.020 1.000 2 2004 2013
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2004 2004
dbSNP: rs1831992
rs1831992
ZIC2
2 1.000 0.080 13 99983123 synonymous variant C/T snv 8.1E-02 7.8E-02 0.010 < 0.001 1 2004 2004
dbSNP: rs1532268
rs1532268
MTRR
12 0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 0.010 1.000 1 2005 2005
dbSNP: rs162036
rs162036
MTRR
6 0.827 0.200 5 7885846 missense variant A/G snv 0.18 0.21 0.010 1.000 1 2005 2005
dbSNP: rs2298526
rs2298526
NCAM1
1 11 112981742 intron variant T/C snv 0.45 0.010 1.000 1 2005 2005
dbSNP: rs751421713
rs751421713
MTHFD1L
1 6 151013801 missense variant A/G snv 8.0E-06 0.020 1.000 2 2006 2009
dbSNP: rs4816
rs4816
PCMT1
2 1.000 0.080 6 149793609 missense variant G/A snv 0.46 0.53 0.010 1.000 1 2006 2006
dbSNP: rs3832406
rs3832406
MTHFD1L
3 0.925 6 150898848 intron variant -/A;ATA;ATTATG ins 5.8E-05; 4.3E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs1212671656
rs1212671656
TUBGCP2
1 10 133297981 missense variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2336573
rs2336573
CD320
1 19 8302825 missense variant C/T snv 5.9E-02 0.12 0.010 1.000 1 2010 2010
dbSNP: rs368939818
rs368939818
FOLH1
13 0.763 0.280 11 49156734 missense variant G/A snv 4.0E-05 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs755001634
rs755001634
FOLH1
13 0.763 0.280 11 49154384 stop gained G/A snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs769029092
rs769029092
GOLGA4
2 1.000 0.040 3 37295073 missense variant C/T snv 4.5E-06 0.010 1.000 1 2010 2010
dbSNP: rs777628969
rs777628969
CALR ; MIR6515
1 19 12940603 missense variant A/C snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs912942180
rs912942180
TUBGCP2
2 1.000 0.040 10 133297344 missense variant G/A snv 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs9426
rs9426
CD320
1 19 8302274 3 prime UTR variant C/T snv 5.5E-02 0.12 0.010 1.000 1 2010 2010
dbSNP: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2011 2011
dbSNP: rs2274976
rs2274976
MTHFR
7 0.807 0.320 1 11790870 missense variant C/T snv 5.6E-02 4.2E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs4242182
rs4242182
MSX2
2 5 174729165 missense variant T/A;C;G snv 4.0E-06; 0.88; 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.060 1.000 6 2012 2019
dbSNP: rs10827337
rs10827337
PARD3
1 10 34202922 intron variant G/A snv 0.20 0.010 1.000 1 2012 2012
dbSNP: rs12218196
rs12218196
PARD3
1 10 34196864 intron variant T/C snv 2.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs1421085
rs1421085
FTO
28 0.752 0.280 16 53767042 intron variant T/C snv 0.31 0.010 1.000 1 2012 2012
dbSNP: rs1476413
rs1476413
MTHFR
10 0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 0.010 1.000 1 2012 2012