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: 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: 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: 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: rs7646
rs7646
MTHFD1L ; MIR12131
1 6 151101614 3 prime UTR variant A/G;T snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs766422988
rs766422988
AMT
1 3 49417962 stop gained G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs76665876
rs76665876
TRIM4
1 7 99892234 missense variant G/A snv 4.5E-03 1.3E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs777628969
rs777628969
CALR ; MIR6515
1 19 12940603 missense variant A/C snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs8589
rs8589
MMUT
1 6 49435569 missense variant T/C snv 0.56 0.59 0.010 < 0.001 1 2003 2003
dbSNP: rs906049409
rs906049409
GLDC
1 9 6550898 missense variant C/T snv 1.4E-05 0.010 1.000 1 2018 2018
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