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: rs1057515420
rs1057515420
EPHB4
1 1.000 0.080 7 100819874 missense variant G/A snv 0.700 1.000 2 2009 2016
dbSNP: rs387906814
rs387906814
GATA6
1 1.000 0.080 18 22171736 missense variant C/G snv 6.6E-05 6.7E-04 0.700 1.000 2 2010 2010
dbSNP: rs774966208
rs774966208
NOTCH1
1 1.000 0.080 9 136523014 missense variant C/G;T snv 0.700 1.000 2 2009 2016
dbSNP: rs10080
rs10080
NRP1
1 1.000 0.080 10 33178180 3 prime UTR variant G/A snv 0.50 0.010 1.000 1 2018 2018
dbSNP: rs1114167357
rs1114167357
TPM1
1 1.000 0.080 15 63042945 splice donor variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1131695
rs1131695
JAG1
1 1.000 0.080 20 10652589 stop gained G/A;C;T snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs115875978
rs115875978
ALDH1A2
1 1.000 0.080 15 58010691 missense variant C/A;T snv 5.9E-04; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121434424
rs121434424
GDF1 ; CERS1
1 1.000 0.080 19 18869231 missense variant C/A;T snv 2.1E-04 0.800 1.000 1 2007 2007
dbSNP: rs12519770
rs12519770
ADGRV1
1 1.000 0.080 5 90777460 intron variant A/G snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs1448468136
rs1448468136
ZFPM2 ; ZFPM2-AS1
1 1.000 0.080 8 105802610 missense variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs149655951
rs149655951
ALDH1A2
1 1.000 0.080 15 57992742 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1857231
rs1857231 		1 1.000 0.080 10 8919651 intergenic variant G/A snv 0.64 0.700 1.000 1 2013 2013
dbSNP: rs233716
rs233716
RPH3A
1 1.000 0.080 12 112602139 intron variant C/T snv 0.58 0.700 1.000 1 2013 2013
dbSNP: rs233722
rs233722
RPH3A
1 1.000 0.080 12 112593670 intron variant G/A snv 0.53 0.700 1.000 1 2013 2013
dbSNP: rs2388896
rs2388896
LINC02676
1 1.000 0.080 10 8912261 intron variant A/G snv 0.64 0.800 1.000 1 2013 2013
dbSNP: rs288979
rs288979
ROCK1
1 1.000 0.080 18 21031282 intron variant A/G snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs368858287
rs368858287
GATA6
1 1.000 0.080 18 22200684 missense variant G/C;T snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs4771856
rs4771856
GPC5 ; GPC5-AS2
1 1.000 0.080 13 92342256 intron variant C/A snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs56085230
rs56085230
ROCK1
1 1.000 0.080 18 21042578 synonymous variant G/A snv 6.7E-03 6.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs6499100
rs6499100 		1 1.000 0.080 16 52797550 intergenic variant T/C snv 0.42 0.800 1.000 1 2013 2013
dbSNP: rs771792843
rs771792843
GATA4
1 1.000 0.080 8 11749060 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs7982677
rs7982677
GPC5
1 1.000 0.080 13 92336070 intron variant C/A snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs864622513
rs864622513
GDF1 ; CERS1
1 1.000 0.080 19 18868791 missense variant A/G snv 1.1E-03 1.1E-04 0.700 1.000 1 2007 2007
dbSNP: rs1445910672
rs1445910672
TBX1
1 1.000 0.080 22 19761255 stop gained G/A;T snv 0.700 0
dbSNP: rs1569484042
rs1569484042
COX1 ; COX2 ; ND2
1 1.000 0.080 MT 5954 frameshift variant A/- del 0.700 0