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: rs1562127631
rs1562127631
PHIP ; IRAK1BP1
24 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
dbSNP: rs1569518070
rs1569518070
COL6A1
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
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: rs201140091
rs201140091
FRMPD2
1 1.000 0.040 10 48200198 intron variant A/-;AAAAA;AAAAAA;AAAAAAAAA;AAAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAAA;AAAAAAAAAAAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs34016308
rs34016308
CPSF2
1 1.000 0.040 14 92149397 intron variant -/TA delins 0.19 0.700 1.000 1 2016 2016
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: rs1057518799
rs1057518799
POGZ
7 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
dbSNP: rs1057518848
rs1057518848
TCF4
15 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
dbSNP: rs1057518909
rs1057518909
FBN1
5 0.925 0.120 15 48534099 frameshift variant CATT/- delins 0.700 0
dbSNP: rs1553200431
rs1553200431
COL11A1
8 0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 0.700 0
dbSNP: rs1554210073
rs1554210073
PHIP
21 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1566785444
rs1566785444
IRF2BPL
20 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
dbSNP: rs1569548274
rs1569548274
MECP2
43 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs876657380
rs876657380
ARID1B
11 0.851 0.360 6 157181155 frameshift variant AA/- delins 0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
33 0.742 0.320 2 178533657 inframe deletion GTT/- delins 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: rs3759223
rs3759223
LUM
2 0.925 0.040 12 91113006 upstream gene variant A/G snv 2.7E-02 0.030 0.667 3 2009 2014
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: 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: 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: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014