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: rs104894910
rs104894910
NYX
3 0.882 0.080 X 41473734 missense variant G/C snv 0.010 1.000 1 2006 2006
dbSNP: rs1057518829
rs1057518829
CACNA1F
2 1.000 0.040 X 49230343 stop gained T/A snv 0.700 0
dbSNP: rs1569548274
rs1569548274
MECP2
43 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 0.700 0
dbSNP: rs28934907
rs28934907
MECP2
30 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
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: rs131451
rs131451
MMP11 ; LOC107985577
4 0.882 0.120 22 23771357 intron variant C/T snv 0.82 0.010 1.000 1 2012 2012
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: rs9330813
rs9330813
WNT7B
4 1.000 0.040 22 45968281 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs2839471
rs2839471
UMODL1
1 1.000 0.040 21 42134346 intron variant C/T snv 0.39 0.010 < 0.001 1 2011 2011
dbSNP: rs397515624
rs397515624
CRYAA ; LOC107987300
4 0.851 0.040 21 43169133 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs73157695
rs73157695 		1 1.000 0.040 21 45952033 intergenic variant G/A snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs1569518070
rs1569518070
COL6A1
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
dbSNP: rs2274755
rs2274755
MMP9
5 0.882 0.040 20 46011053 splice region variant G/T snv 0.15 0.15 0.010 1.000 1 2012 2012
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: 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: 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: 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: rs1555735545
rs1555735545
STRN4 ; FKRP
22 0.851 0.160 19 46746071 5 prime UTR variant G/A snv 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: 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: rs12965607
rs12965607
MYO5B
1 1.000 0.040 18 49864655 intron variant T/G snv 1.0E-01 0.700 1.000 1 2016 2016
dbSNP: rs1057518848
rs1057518848
TCF4
15 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
dbSNP: rs1568019012
rs1568019012
LAMA1
13 0.790 0.360 18 6985616 stop gained G/A snv 0.700 0
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: rs11658305
rs11658305 		1 1.000 0.040 17 7526004 intergenic variant A/C;T snv 0.700 1.000 1 2016 2016