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: rs339501
rs339501
FGF10
2 0.925 0.040 5 44365531 intron variant C/T snv 0.94 0.030 1.000 3 2013 2019
dbSNP: rs131451
rs131451
MMP11 ; LOC107985577
4 0.882 0.120 22 23771357 intron variant C/T snv 0.82 0.010 1.000 1 2012 2012
dbSNP: rs1635529
rs1635529
COL2A1
2 0.925 0.040 12 48001319 intron variant T/G snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs826220
rs826220
THRB
1 1.000 0.040 3 24227186 intron variant C/T snv 0.70 0.700 1.000 1 2016 2016
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2012 2012
dbSNP: rs2853559
rs2853559
VDR
1 1.000 0.040 12 47889022 intron variant A/G snv 0.68 0.010 1.000 1 2011 2011
dbSNP: rs1370156
rs1370156 		1 1.000 0.040 15 34692682 intergenic variant G/C snv 0.67 0.700 1.000 1 2014 2014
dbSNP: rs71041628
rs71041628
GRIA4
1 1.000 0.040 11 105794433 intron variant GTGTGTGTGT/-;GTGT;GTGTGT;GTGTGTGT;GTGTGTGTGTGT delins 0.67 0.700 1.000 1 2016 2016
dbSNP: rs13129838
rs13129838
OR7E94P ; LINC00989 ; LOC107986294
1 1.000 0.040 4 79587634 non coding transcript exon variant T/C snv 0.66 0.700 1.000 1 2016 2016
dbSNP: rs7744813
rs7744813
KCNQ5
3 0.925 0.040 6 72933566 intron variant C/A snv 0.66 0.710 1.000 2 2016 2017
dbSNP: rs297589
rs297589
GPD2
1 1.000 0.040 2 156502238 intron variant T/A snv 0.65 0.700 1.000 1 2016 2016
dbSNP: rs1550094
rs1550094
PRSS56
1 1.000 0.040 2 232520686 missense variant G/A snv 0.72 0.64 0.710 1.000 2 2016 2016
dbSNP: rs2946834
rs2946834
HELLPAR ; LINC02456
7 0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63 0.010 1.000 1 2011 2011
dbSNP: rs5022942
rs5022942
BMP3
1 1.000 0.040 4 81038812 intron variant A/G snv 0.59 0.700 1.000 1 2016 2016
dbSNP: rs9318086
rs9318086
MIPEP
3 0.882 0.040 13 23858328 intron variant A/G snv 0.55 0.020 1.000 2 2019 2019
dbSNP: rs2155413
rs2155413
DLG2
1 1.000 0.040 11 84923746 intron variant C/A snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs10511652
rs10511652
ADAMTSL1 ; LOC107986990
1 1.000 0.040 9 18362867 intron variant A/G snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs10033900
rs10033900
CFI
7 0.807 0.040 4 109737911 intron variant T/C snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs8027411
rs8027411
ANKRD34C-AS1
4 0.882 0.040 15 79168687 intron variant G/T snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs4948523
rs4948523
BICC1
1 1.000 0.040 10 58579338 intron variant A/C snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs524952
rs524952 		6 0.827 0.040 15 34713685 intergenic variant T/A snv 0.50 0.710 1.000 2 2016 2019
dbSNP: rs10887265
rs10887265
RGR
1 1.000 0.040 10 84255817 intron variant G/C snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs11743810
rs11743810
EGR1
1 1.000 0.040 5 138466715 intron variant C/T snv 0.50 0.48 0.010 1.000 1 2016 2016
dbSNP: rs6469937
rs6469937
SNTB1
3 0.882 0.040 8 120598198 intron variant G/A snv 0.48 0.010 < 0.001 1 2017 2017
dbSNP: rs634990
rs634990 		6 0.827 0.040 15 34713872 intergenic variant T/C snv 0.48 0.020 1.000 2 2012 2018