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: 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: rs1831992
rs1831992
ZIC2
2 1.000 0.080 13 99983123 synonymous variant C/T snv 8.1E-02 7.8E-02 0.010 < 0.001 1 2004 2004
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: rs374628070
rs374628070
FOLR3
2 1.000 0.080 11 72139145 missense variant G/A snv 7.7E-05 2.6E-04 0.010 < 0.001 1 2017 2017
dbSNP: rs3755166
rs3755166
LRP2
4 1.000 0.080 2 169363371 upstream gene variant A/C;G snv 0.010 1.000 1 2018 2018
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: rs452159
rs452159
ADA
2 1.000 0.040 20 44642461 intron variant G/T snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs4816
rs4816
PCMT1
2 1.000 0.080 6 149793609 missense variant G/A snv 0.46 0.53 0.010 1.000 1 2006 2006
dbSNP: rs502396
rs502396
TYMS ; TYMSOS
2 1.000 0.080 18 659236 intron variant C/T snv 0.46 0.010 1.000 1 2012 2012
dbSNP: rs7169289
rs7169289 		2 1.000 0.040 15 57951485 downstream gene variant G/A snv 0.83 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: rs769029092
rs769029092
GOLGA4
2 1.000 0.040 3 37295073 missense variant C/T snv 4.5E-06 0.010 1.000 1 2010 2010
dbSNP: rs778976254
rs778976254
DACT1
2 1.000 14 58638335 missense variant C/T snv 6.0E-04 2.1E-05 0.010 1.000 1 2012 2012
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: rs10786691
rs10786691
SUFU
3 0.925 0.160 10 102604895 intron variant G/A;T snv 0.010 1.000 1 2014 2014
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: rs2544390
rs2544390
LRP2
4 0.925 0.080 2 169348336 intron variant C/T snv 0.45 0.010 1.000 1 2018 2018
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: 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: rs771174392
rs771174392
DNMT3A
3 0.925 0.200 2 25235779 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs202676
rs202676
FOLH1
7 0.851 0.160 11 49206068 stop lost A/G snv 0.28 0.33 0.010 1.000 1 2018 2018
dbSNP: rs5015480
rs5015480 		9 0.851 0.120 10 92705802 downstream gene variant C/T snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs753772659
rs753772659
FOLH1
5 0.851 0.120 11 49185830 missense variant G/A snv 5.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs7946
rs7946
PEMT
6 0.851 0.160 17 17506246 missense variant C/T snv 0.59 0.59 0.010 1.000 1 2014 2014