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: 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: rs10034228
rs10034228 		3 0.882 0.040 4 111690594 intergenic variant T/C snv 0.32 0.020 1.000 2 2012 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: rs524952
rs524952 		6 0.827 0.040 15 34713685 intergenic variant T/A snv 0.50 0.710 1.000 2 2016 2019
dbSNP: rs9318086
rs9318086
MIPEP
3 0.882 0.040 13 23858328 intron variant A/G snv 0.55 0.020 1.000 2 2019 2019
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: 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: 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: 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: rs644242
rs644242
PAX6
3 0.882 0.040 11 31791253 non coding transcript exon variant C/A;G snv 0.030 1.000 3 2011 2018
dbSNP: rs10453441
rs10453441
WNT7B
3 1.000 0.040 22 45967859 intron variant A/G snv 0.40 0.020 1.000 2 2015 2018
dbSNP: rs634990
rs634990 		6 0.827 0.040 15 34713872 intergenic variant T/C snv 0.48 0.020 1.000 2 2012 2018
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: 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: 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: 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: rs9330813
rs9330813
WNT7B
4 1.000 0.040 22 45968281 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs7744813
rs7744813
KCNQ5
3 0.925 0.040 6 72933566 intron variant C/A snv 0.66 0.710 1.000 2 2016 2017
dbSNP: rs1327062642
rs1327062642
TULP1
11 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076
BPTF
16 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
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: rs1550094
rs1550094
PRSS56
1 1.000 0.040 2 232520686 missense variant G/A snv 0.72 0.64 0.710 1.000 2 2016 2016