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: rs113994095
rs113994095
POLG ; MIR6766
31 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 41 2001 2018
dbSNP: rs387906309
rs387906309
HEXA
10 0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 0.700 1.000 3 2012 2014
dbSNP: rs1057519464
rs1057519464
HEXA
7 0.925 0.160 15 72347711 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs121907966
rs121907966
HEXA
9 0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 1 1992 1992
dbSNP: rs121907972
rs121907972
HEXA
6 0.925 0.160 15 72353130 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs1043679457
rs1043679457
ERCC8
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs1057518770
rs1057518770
UBE3A ; SNHG14
6 1.000 15 25354536 missense variant C/T snv 0.700 0
dbSNP: rs1057518843
rs1057518843
GALC
19 0.790 0.240 14 87988523 missense variant C/T snv 0.700 0
dbSNP: rs1057519466
rs1057519466
HEXA
7 0.925 0.160 15 72346307 frameshift variant G/- del 0.700 0
dbSNP: rs1064795760
rs1064795760
BICD2
14 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
dbSNP: rs1085308054
rs1085308054
PTEN
7 0.827 0.160 10 87952231 frameshift variant AT/- delins 0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
23 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
dbSNP: rs1553511224
rs1553511224
TBR1
10 0.882 0.080 2 161423825 frameshift variant -/C delins 0.700 0
dbSNP: rs1553770577
rs1553770577
UBA5 ; NPHP3-ACAD11
37 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
dbSNP: rs1554110735
rs1554110735
TFAP2A
13 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
dbSNP: rs1555507479
rs1555507479
GNAO1
12 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
dbSNP: rs200661329
rs200661329
PIGQ
48 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
dbSNP: rs28934906
rs28934906
MECP2
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
dbSNP: rs377274761
rs377274761
GALC
20 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
dbSNP: rs61750240
rs61750240
MECP2
19 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 0
dbSNP: rs727502818
rs727502818
KCNC1
26 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
dbSNP: rs753242774
rs753242774
DHX30 ; MIR1226
9 0.882 0.120 3 47848237 missense variant C/A;T snv 0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
54 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0