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: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs1203798584
rs1203798584
FOLR2
1 11 72221671 missense variant C/T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1212671656
rs1212671656
TUBGCP2
1 10 133297981 missense variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs12132032
rs12132032
PRKACB
2 1.000 0.080 1 84100906 intron variant A/G snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs121918219
rs121918219
VANGL1
2 1.000 1 115682372 missense variant G/A snv 2.4E-05 4.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs12218196
rs12218196
PARD3
1 10 34196864 intron variant T/C snv 2.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs1237063529
rs1237063529
CBS
13 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2001 2001
dbSNP: rs1256146
rs1256146
MTHFD1 ; ZBTB25
1 14 64453947 intron variant G/A snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs1257122540
rs1257122540
SEC24B
1 4 109539620 missense variant C/G snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1268970749
rs1268970749
PRCP
1 11 82838473 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1314974864
rs1314974864
VANGL2
1 1 160419339 missense variant G/A snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs1339039642
rs1339039642
MTHFD1L
2 6 150905744 missense variant C/T snv 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs1370179177
rs1370179177
GPI
1 19 34378944 missense variant C/T snv 7.0E-06 0.010 1.000 1 2000 2000
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: rs1445081098
rs1445081098
COMT ; MIR4761
17 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2015 2015
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
dbSNP: rs148512517
rs148512517
VANGL1
1 1 115691354 missense variant G/A;T snv 5.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs150198234
rs150198234
MTR
1 1 236852992 synonymous variant G/A snv 4.0E-06 1.4E-05 0.010 < 0.001 1 2003 2003
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: rs17187449
rs17187449
KCNB2
1 8 72830736 intron variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs17719944
rs17719944
SARM1 ; SLC46A1
1 17 28402435 3 prime UTR variant A/G snv 5.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs17857382
rs17857382
MTHFD1 ; ZBTB25
1 14 64449470 missense variant C/G;T snv 4.0E-06; 7.6E-03 0.010 < 0.001 1 2015 2015
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