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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.667 21 1999 2019
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.050 0.800 5 2003 2013
dbSNP: rs1169089134
rs1169089134
FOLH1
9 0.790 0.320 11 49206785 missense variant C/G;T snv 0.020 1.000 2 2004 2010
dbSNP: rs737865
rs737865
COMT ; TXNRD2
11 0.763 0.240 22 19942598 intron variant A/G snv 0.23 0.020 1.000 2 2014 2015
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1051226
rs1051226
TPM3
1 1 154157607 3 prime UTR variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs10786691
rs10786691
SUFU
3 0.925 0.160 10 102604895 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10827337
rs10827337
PARD3
1 10 34202922 intron variant G/A snv 0.20 0.010 1.000 1 2012 2012
dbSNP: rs10925260
rs10925260
MTR
1 1 236884786 intron variant A/C snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs11247593
rs11247593
ARID1A
1 1 26725589 intron variant G/A snv 0.30 0.010 1.000 1 2014 2014
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: rs12218196
rs12218196
PARD3
1 10 34196864 intron variant T/C snv 2.0E-02 0.010 1.000 1 2012 2012
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: 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: 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: rs1956545
rs1956545 		1 14 64386187 intron variant C/T snv 0.92 0.010 1.000 1 2015 2015
dbSNP: rs2071045
rs2071045
LEP
3 0.925 0.120 7 128252927 intron variant T/C snv 0.18 0.010 1.000 1 2012 2012
dbSNP: rs2237892
rs2237892
KCNQ1
16 0.790 0.320 11 2818521 intron variant C/T snv 9.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs2298526
rs2298526
NCAM1
1 11 112981742 intron variant T/C snv 0.45 0.010 1.000 1 2005 2005
dbSNP: rs2305225
rs2305225
ALDH1L1
1 3 126131662 intron variant G/A snv 0.64 0.010 1.000 1 2016 2016