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: rs2233789
rs2233789
RDH8
2 0.925 0.040 19 10013026 upstream gene variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2274755
rs2274755
MMP9
5 0.882 0.040 20 46011053 splice region variant G/T snv 0.15 0.15 0.010 1.000 1 2012 2012
dbSNP: rs2839471
rs2839471
UMODL1
1 1.000 0.040 21 42134346 intron variant C/T snv 0.39 0.010 < 0.001 1 2011 2011
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: 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: rs2973644
rs2973644
FGF10
2 0.925 0.040 5 44384081 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3026393
rs3026393
PAX6 ; ELP4
2 0.925 0.040 11 31790667 intron variant A/C;G;T snv 0.48; 8.0E-06; 7.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs3741834
rs3741834
LUM
2 0.925 0.040 12 91111607 upstream gene variant G/A snv 2.6E-02 0.010 1.000 1 2009 2009
dbSNP: rs3760753
rs3760753
COL5A3 ; RDH8
1 1.000 0.040 19 10011783 upstream gene variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs397515624
rs397515624
CRYAA ; LOC107987300
4 0.851 0.040 21 43169133 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs4373767
rs4373767 		4 0.882 0.040 1 219586340 regulatory region variant C/T snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs498186
rs498186
MMP1 ; WTAPP1
2 0.925 0.080 11 102798914 intron variant A/C snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs5742629
rs5742629
IGF1 ; LINC02456
1 1.000 0.040 12 102463485 non coding transcript exon variant T/C snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs5742632
rs5742632
IGF1 ; LINC02456
4 0.851 0.120 12 102462696 intron variant A/G snv 0.26 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: rs669676
rs669676
COL8A1
2 1.000 0.040 3 99730008 intron variant A/G snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs6837348
rs6837348 		1 1.000 0.040 4 111787647 intergenic variant G/A snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs747797174
rs747797174
GOLGA6A
2 0.925 0.040 15 74070978 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs748448196
rs748448196
ZNF644
1 1.000 0.040 1 90939337 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs77543610
rs77543610
FGFR2
28 0.667 0.560 10 121520160 missense variant G/C snv 0.010 1.000 1 2006 2006
dbSNP: rs7839488
rs7839488
SNTB1
4 0.882 0.040 8 120550178 intron variant G/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs79002828
rs79002828
FGF10
2 0.925 0.040 5 44318015 intron variant A/G snv 9.6E-03 0.010 1.000 1 2019 2019
dbSNP: rs79184941
rs79184941
FGFR2
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.010 1.000 1 2006 2006
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: rs9321170
rs9321170
LAMA2 ; LOC102723409
1 1.000 0.040 6 129501692 intron variant G/A;C snv 0.010 1.000 1 2016 2016