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: 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: rs1057518881
rs1057518881
FBN1
6 0.827 0.200 15 48513656 missense variant C/A;G;T snv 0.700 0
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: rs10936538
rs10936538 		1 1.000 0.040 3 167439281 downstream gene variant C/A;T snv 0.010 1.000 1 2012 2012
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: rs2973644
rs2973644
FGF10
2 0.925 0.040 5 44384081 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs111854391
rs111854391
TGFBR1
18 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
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: rs28937900
rs28937900
FKRP
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs17428076
rs17428076
SLC25A12
1 1.000 0.040 2 171987022 intron variant C/G snv 0.18 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: rs34217772
rs34217772
LRFN5
1 1.000 0.040 14 41804367 intron variant C/G snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs1057518938
rs1057518938
MYH11 ; NDE1
5 0.882 0.080 16 15724166 missense variant C/G snv 0.700 0
dbSNP: rs569681869
rs569681869
COL4A4
6 0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05 0.700 0
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: 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: 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: rs142239530
rs142239530
STIM1
24 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
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: rs662702
rs662702
PAX6 ; ELP4
3 0.882 0.040 11 31787522 3 prime UTR variant C/T snv 0.15 0.030 1.000 3 2011 2019
dbSNP: rs13382811
rs13382811
ZEB2
4 0.882 0.040 2 144466053 intron variant C/T snv 0.21 0.020 0.500 2 2017 2019
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: rs10512441
rs10512441 		1 1.000 0.040 17 32912627 regulatory region variant C/T snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs10892173
rs10892173
FXYD2 ; DSCAML1 ; LOC107984394
1 1.000 0.040 11 117801846 3 prime UTR variant C/T snv 0.38 0.700 1.000 1 2016 2016