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: rs3784757
rs3784757
ACAN
1 1.000 0.040 15 88860173 intron variant G/A snv 0.13 0.020 1.000 2 2011 2014
dbSNP: rs4373767
rs4373767 		4 0.882 0.040 1 219586340 regulatory region variant C/T snv 0.32 0.020 1.000 2 2012 2019
dbSNP: rs644242
rs644242
PAX6
3 0.882 0.040 11 31791253 non coding transcript exon variant C/A;G snv 0.020 1.000 2 2012 2014
dbSNP: rs8027411
rs8027411
ANKRD34C-AS1
4 0.882 0.040 15 79168687 intron variant G/T snv 0.52 0.020 0.500 2 2011 2015
dbSNP: rs10034228
rs10034228 		3 0.882 0.040 4 111690594 intergenic variant T/C snv 0.32 0.010 1.000 1 2011 2011
dbSNP: rs1003483
rs1003483
IGF2 ; IGF2-AS ; INS-IGF2
1 1.000 0.040 11 2146313 non coding transcript exon variant T/G snv 0.47 0.40 0.010 1.000 1 2015 2015
dbSNP: rs10046
rs10046
CYP19A1 ; MIR4713HG
18 0.708 0.400 15 51210789 3 prime UTR variant G/A snv 0.45 0.43 0.010 1.000 1 2011 2011
dbSNP: rs10215153
rs10215153
MET
1 1.000 0.040 7 116759077 intron variant G/A snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs10824518
rs10824518
KCNMA1
3 0.882 0.040 10 77303784 intron variant T/A;C snv 0.010 1.000 1 2019 2019
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: rs11073058
rs11073058 		3 1.000 0.040 15 34697425 regulatory region variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1107946
rs1107946
COL1A1
2 1.000 0.040 17 50203629 intron variant A/C snv 0.80 0.010 1.000 1 2007 2007
dbSNP: rs116126526
rs116126526
OPTC ; LOC105371688
1 1.000 0.040 1 203503710 missense variant G/A snv 1.2E-03 2.6E-03 0.010 1.000 1 2007 2007
dbSNP: rs11746675
rs11746675
GRM6
1 1.000 0.040 5 178986946 synonymous variant T/C snv 0.60 0.57 0.010 1.000 1 2016 2016
dbSNP: rs12321
rs12321
ZNRF3
2 1.000 0.040 22 29057205 3 prime UTR variant G/C snv 0.38 0.010 < 0.001 1 2016 2016
dbSNP: rs12421026
rs12421026
PAX6 ; ELP4
1 1.000 0.040 11 31787774 3 prime UTR variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs12423791
rs12423791
IGF1
5 0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs12716080
rs12716080
CTNND2
3 0.882 0.040 5 11166836 intron variant G/T snv 0.39 0.010 < 0.001 1 2011 2011
dbSNP: rs13095226
rs13095226
COL8A1
5 0.851 0.040 3 99677428 intron variant T/C snv 9.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs146113475
rs146113475
TNFRSF21
1 1.000 0.040 6 47286087 missense variant G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs1635529
rs1635529
COL2A1
2 0.925 0.040 12 48001319 intron variant T/G snv 0.78 0.010 < 0.001 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 < 0.001 1 2010 2010
dbSNP: rs1656404
rs1656404 		3 0.925 0.040 2 232515231 regulatory region variant G/A snv 0.18 0.010 1.000 1 2017 2017
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: rs17175798
rs17175798
ANKRD34C-AS1
3 0.925 0.040 15 79171618 intron variant C/A;T snv 0.010 < 0.001 1 2011 2011