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: 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: rs10462070
rs10462070
FGF10
1 1.000 0.040 5 44305647 intron variant A/G snv 1.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs10488
rs10488
MMP1 ; WTAPP1
1 1.000 0.040 11 102797291 synonymous variant C/G;T snv 4.0E-06; 5.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs104894910
rs104894910
NYX
3 0.882 0.080 X 41473734 missense variant G/C snv 0.010 1.000 1 2006 2006
dbSNP: rs10860860
rs10860860
HELLPAR ; LINC02456
2 0.925 0.040 12 102387055 non coding transcript exon variant A/T snv 0.28 0.010 1.000 1 2011 2011
dbSNP: rs10936538
rs10936538 		1 1.000 0.040 3 167439281 downstream gene variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs11218544
rs11218544
MIR100HG
1 1.000 0.040 11 122168344 intron variant T/G snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs11225395
rs11225395
MMP8
11 0.776 0.360 11 102725749 intron variant A/C;G snv 0.010 1.000 1 2012 2012
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: rs11873439
rs11873439
CCDC102B
2 1.000 0.040 18 69077051 intergenic variant A/C snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs12423791
rs12423791
IGF1
5 0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs12517396
rs12517396
FGF10
1 1.000 0.040 5 44359424 intron variant C/A snv 4.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs12603825
rs12603825
SERPINF1
1 1.000 0.040 17 1770111 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs12716080
rs12716080
CTNND2
3 0.882 0.040 5 11166836 intron variant G/T snv 0.39 0.010 1.000 1 2014 2014
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: rs1585471
rs1585471 		1 1.000 0.040 4 111781479 regulatory region variant A/G snv 0.30 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: rs1644731
rs1644731
RDH8
2 0.925 0.040 19 10021323 missense variant T/A;C snv 4.0E-06; 0.52 0.010 1.000 1 2010 2010
dbSNP: rs17122571
rs17122571
LOC105369750
2 0.925 0.040 12 48027251 upstream gene variant A/G snv 8.2E-02 0.010 1.000 1 2009 2009
dbSNP: rs1867315
rs1867315
RASGRF1 ; LOC100129540
3 0.882 0.120 15 78977393 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1889891
rs1889891
LAMA2
1 1.000 0.040 6 129492201 non coding transcript exon variant C/T snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs200329677
rs200329677
WNT7B
1 1.000 0.040 22 45973898 intron variant C/T snv 1.4E-05 0.010 1.000 1 2018 2018
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: rs2071754
rs2071754
PAX6
1 1.000 0.040 11 31791034 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2218817
rs2218817 		1 1.000 0.040 4 111689850 regulatory region variant G/A snv 0.32 0.010 1.000 1 2012 2012