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: rs9913911
rs9913911
GAS7
4 0.925 0.040 17 10127866 intron variant A/G snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs9853115
rs9853115 		3 0.925 0.040 3 186413811 intergenic variant T/A;G snv 0.51 0.700 1.000 1 2018 2018
dbSNP: rs9494457
rs9494457
PDE7B
2 1.000 0.040 6 136153656 intron variant T/A snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs945686
rs945686
LMX1B
1 1.000 0.040 9 126615747 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs944801
rs944801
CDKN2B-AS1
4 0.882 0.120 9 22051671 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs9309969
rs9309969
CADM2
2 1.000 0.040 3 85085406 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs9284802
rs9284802
CADM2
1 1.000 0.040 3 85046615 intron variant G/A snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs893817
rs893817
LOXL1
1 1.000 0.040 15 73936724 intron variant G/A snv 0.67 0.700 1.000 1 2007 2007
dbSNP: rs886041355
rs886041355
FOXC1
1 1.000 0.040 6 1610901 stop gained G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs879255525
rs879255525
MYOC ; MYOCOS
1 1.000 0.040 1 171636617 stop gained T/A snv 4.0E-06 0.710 1.000 1 2018 2018
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.040 0.500 4 2005 2018
dbSNP: rs869833
rs869833
TMEM182
1 1.000 0.040 2 102766672 intron variant T/C snv 0.49 0.010 < 0.001 1 2013 2013
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs8141433
rs8141433 		1 1.000 0.040 22 19866483 intergenic variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs8006686
rs8006686
MTHFD1
2 0.925 0.040 14 64401953 intron variant T/C snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs79691946
rs79691946
FOXC1
2 0.925 0.040 6 1611334 missense variant C/T snv 2.8E-03 3.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs7924522
rs7924522
ETS1
2 1.000 0.040 11 128510847 intron variant C/A snv 0.70 0.700 1.000 1 2018 2018
dbSNP: rs79204362
rs79204362
CYP1B1
10 0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 0.010 1.000 1 2005 2005
dbSNP: rs7865618
rs7865618
CDKN2B-AS1
11 0.776 0.240 9 22031006 non coding transcript exon variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs786204848
rs786204848
DDX58
4 0.882 0.040 9 32488884 missense variant C/A snv 0.010 1.000 1 2015 2015
dbSNP: rs7859156
rs7859156
LMX1B
4 0.851 0.040 9 126637749 intron variant T/C snv 0.74 0.010 1.000 1 2009 2009
dbSNP: rs7854658
rs7854658
LMX1B
3 0.882 0.040 9 126652659 intron variant G/A snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs77888940
rs77888940
FOXC1
1 1.000 0.040 6 1610017 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs774766411
rs774766411
CXCL8
1 1.000 0.040 4 73741625 missense variant A/G snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs7663205
rs7663205
AFAP1
1 1.000 0.040 4 7887369 intron variant C/T snv 0.45 0.700 1.000 1 2018 2018