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: 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: 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
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: rs2496720
rs2496720
PARD3
1 10 34606401 intron variant T/C snv 0.10 0.010 1.000 1 2012 2012
dbSNP: rs2855658
rs2855658
CYP1B1 ; RMDN2
2 2 38069747 3 prime UTR variant T/C snv 0.49 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: rs3808553
rs3808553
FZD6
1 8 103325139 missense variant A/C;G snv 0.47 0.010 1.000 1 2014 2014
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: 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: rs4646733
rs4646733
ALDH1L1
1 3 126131258 intron variant C/T snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs4795436
rs4795436
SARM1 ; SLC46A1
1 17 28402410 3 prime UTR variant C/T snv 0.92 0.010 1.000 1 2016 2016
dbSNP: rs4839469
rs4839469
VANGL1
1 1 115663802 missense variant G/A;C snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs562920966
rs562920966
DACT1
1 14 58645694 missense variant A/T snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs56811449
rs56811449
MTHFD1
1 14 64417358 intron variant C/T snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs573558988
rs573558988
VANGL2
1 1 160420419 missense variant G/A;T snv 8.0E-06 8.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs594631
rs594631
PRKACB ; LOC107985046
1 1 84220882 intron variant A/T snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs651646
rs651646
FOLR2
1 11 72218482 intron variant T/A snv 0.52 0.010 < 0.001 1 2003 2003
dbSNP: rs6573559
rs6573559
MTHFD1 ; ZBTB25
1 14 64456448 intron variant G/T snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs699517
rs699517
TYMS ; ENOSF1
1 18 673016 3 prime UTR variant C/T snv 0.38 0.40 0.010 1.000 1 2012 2012
dbSNP: rs748917911
rs748917911
SNAI2 ; LOC107986942
1 8 48920164 missense variant G/T snv 4.8E-05 4.2E-05 0.010 1.000 1 1999 1999
dbSNP: rs749455351
rs749455351
PRCP
1 11 82824910 missense variant T/C snv 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs751839046
rs751839046
MTR
1 1 236859890 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2003 2003
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: rs7646
rs7646
MTHFD1L ; MIR12131
1 6 151101614 3 prime UTR variant A/G;T snv 0.22 0.010 1.000 1 2014 2014