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: rs1026300967
rs1026300967
NTRK1
2 1.000 1 156868246 missense variant T/C snv 0.700 1.000 3 2012 2017
dbSNP: rs1028668536
rs1028668536
GALNS
2 0.925 0.120 16 88841948 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 14 1995 2017
dbSNP: rs1045118320
rs1045118320
COQ4
3 0.925 9 128332219 missense variant C/A snv 7.0E-06 0.700 1.000 13 2005 2017
dbSNP: rs104894003
rs104894003
ACTB
7 0.827 0.320 7 5528536 missense variant G/A snv 0.700 1.000 10 1999 2017
dbSNP: rs104894419
rs104894419
LIG4
8 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 1.000 9 2001 2016
dbSNP: rs104894621
rs104894621
PMP22
9 0.790 0.080 17 15239575 missense variant G/A snv 0.700 1.000 20 1992 2015
dbSNP: rs104894635
rs104894635
SGSH
4 0.882 0.120 17 80213815 missense variant C/A;T snv 4.4E-06; 3.3E-04 0.700 1.000 8 2003 2018
dbSNP: rs104894639
rs104894639
SGSH
3 0.925 0.120 17 80210622 missense variant C/T snv 6.8E-05 2.8E-05 0.700 1.000 8 2003 2018
dbSNP: rs1057516689
rs1057516689
SACS
2 0.925 0.160 13 23336737 frameshift variant T/- delins 7.0E-06 0.700 1.000 21 1993 2016
dbSNP: rs1057516904
rs1057516904
MCOLN1
3 0.925 0.160 19 7528881 frameshift variant -/A delins 0.700 1.000 11 1998 2016
dbSNP: rs1057517825
rs1057517825
SMARCB1 ; DERL3
4 0.925 22 23834143 missense variant G/A snv 0.700 1.000 5 2012 2014
dbSNP: rs1057517955
rs1057517955
KDM5C ; MIR6894
2 0.925 0.080 X 53199128 missense variant C/T snv 0.700 1.000 12 2005 2016
dbSNP: rs1057518204
rs1057518204
DYRK1A ; LOC105372797
2 0.925 21 37480659 stop gained C/T snv 0.700 1.000 18 1990 2016
dbSNP: rs1057518345
rs1057518345
ADNP
25 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 1.000 11 2001 2017
dbSNP: rs1057518496
rs1057518496
SATB2
2 1.000 2 199349006 stop gained G/A snv 0.700 1.000 21 1989 2017
dbSNP: rs1057519413
rs1057519413
RAD51
2 0.925 0.120 15 40729955 missense variant G/A snv 0.700 1.000 3 2014 2015
dbSNP: rs1057519430
rs1057519430
DDX3X
5 0.925 X 41346946 missense variant C/T snv 0.700 1.000 16 1989 2017
dbSNP: rs1057520918
rs1057520918
CACNA1A
11 0.790 0.160 19 13262780 missense variant C/T snv 0.700 1.000 46 1988 2017
dbSNP: rs1057521070
rs1057521070
TCF4
3 0.925 0.200 18 55228999 missense variant C/T snv 0.700 1.000 22 2007 2017
dbSNP: rs1057521083
rs1057521083
SATB2
4 0.925 0.200 2 199348709 missense variant G/A snv 0.700 1.000 21 1989 2017
dbSNP: rs1064793083
rs1064793083
CHD7
4 0.882 0.080 8 60828682 missense variant C/T snv 0.700 1.000 20 1999 2016
dbSNP: rs1064794276
rs1064794276
NF1
2 0.925 0.120 17 31235639 frameshift variant TTTG/- delins 0.700 1.000 34 1967 2017
dbSNP: rs1064795935
rs1064795935
COL4A1
3 1.000 13 110181389 missense variant C/T snv 0.700 1.000 18 1984 2015
dbSNP: rs1064797102
rs1064797102
OTUD6B ; OTUD6B-AS1
15 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1064797103
rs1064797103
OTUD6B
9 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0