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: rs10786691
rs10786691
SUFU
3 0.925 0.160 10 102604895 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3808553
rs3808553
FZD6
1 8 103325139 missense variant A/C;G snv 0.47 0.010 1.000 1 2014 2014
dbSNP: rs34396413
rs34396413
TFAP2A
3 0.925 0.160 6 10400802 intron variant AGA/- delins 6.8E-02 6.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1257122540
rs1257122540
SEC24B
1 4 109539620 missense variant C/G snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2298526
rs2298526
NCAM1
1 11 112981742 intron variant T/C snv 0.45 0.010 1.000 1 2005 2005
dbSNP: rs3814573
rs3814573
TCF7L2
2 1.000 0.080 10 113138334 intron variant T/C snv 0.71 0.010 1.000 1 2012 2012
dbSNP: rs4839469
rs4839469
VANGL1
1 1 115663802 missense variant G/A;C snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs761123443
rs761123443
VANGL1
2 1.000 1 115663998 missense variant G/A snv 2.4E-05 6.3E-05 0.010 1.000 1 2014 2014
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: rs34059106
rs34059106
VANGL1
1 1 115684037 missense variant A/C;G snv 4.0E-03; 4.0E-06 1.7E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs148512517
rs148512517
VANGL1
1 1 115691354 missense variant G/A;T snv 5.2E-05 0.010 1.000 1 2015 2015
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: 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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.667 21 1999 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.882 68 1997 2019
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: rs4646733
rs4646733
ALDH1L1
1 3 126131258 intron variant C/T snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs2305225
rs2305225
ALDH1L1
1 3 126131662 intron variant G/A snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs2276731
rs2276731
ALDH1L1
1 3 126155545 non coding transcript exon variant C/T snv 0.83 0.83 0.010 1.000 1 2016 2016
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: 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: rs1212671656
rs1212671656
TUBGCP2
1 10 133297981 missense variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2797840
rs2797840
SARDH
2 1.000 0.080 9 133671511 intron variant G/A;C snv 0.53; 1.1E-04 0.010 1.000 1 2016 2016
dbSNP: rs2073817
rs2073817
SARDH
1 9 133694338 missense variant C/G;T snv 0.38 0.010 1.000 1 2016 2016