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: rs9585327
rs9585327 		1 1.000 0.040 13 100037100 intergenic variant G/A snv 0.36 0.700 1.000 1 2016 2016
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: 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: 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: 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: 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: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.020 1.000 2 2011 2016
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: 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: 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: rs866294686
rs866294686
TRIM8 ; LOC105378460
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
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: 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: 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: rs1553200431
rs1553200431
COL11A1
8 0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 0.700 0
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: rs1294950721
rs1294950721
JAG1
27 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
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: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
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: rs2218817
rs2218817 		1 1.000 0.040 4 111689850 regulatory region variant G/A snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs10034228
rs10034228 		3 0.882 0.040 4 111690594 intergenic variant T/C snv 0.32 0.020 1.000 2 2012 2019
dbSNP: rs6885224
rs6885224
CTNND2
3 0.882 0.040 5 11169833 intron variant C/A;T snv 0.020 1.000 2 2011 2014
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: rs6837348
rs6837348 		1 1.000 0.040 4 111787647 intergenic variant G/A snv 0.28 0.010 1.000 1 2012 2012