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: 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: rs1057524157
rs1057524157
DEAF1
19 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
dbSNP: rs1057519463
rs1057519463
HEXA
6 0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins 0.700 1.000 1 2014 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: rs1057519467
rs1057519467
HEXA
5 0.925 0.160 15 72345540 missense variant C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs1057519468
rs1057519468
HEXA
6 0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1057519565
rs1057519565
DEAF1
9 0.851 0.200 11 687941 missense variant C/T snv 0.700 1.000 1 2017 2017
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: rs748787734
rs748787734
TUBB4A
13 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
dbSNP: rs752298579
rs752298579
TANGO2
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
GNB1
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs762374961
rs762374961
HEXA
4 0.925 0.160 15 72346235 stop gained C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs773446161
rs773446161
HEXA
7 0.925 0.160 15 72356555 stop gained G/A snv 4.0E-06 0.700 1.000 1 1997 1997
dbSNP: rs786204585
rs786204585
HEXA
6 0.925 0.160 15 72344139 stop gained G/A snv 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs869312825
rs869312825
GNB1
11 0.827 0.120 1 1804548 start lost T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057516264
rs1057516264
TPP1
13 0.776 0.280 11 6614968 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1057516945
rs1057516945
TPP1
2 0.925 0.160 11 6616973 splice donor variant A/C snv 0.700 0
dbSNP: rs1057518843
rs1057518843
GALC
19 0.790 0.240 14 87988523 missense variant C/T snv 0.700 0
dbSNP: rs1057519437
rs1057519437
EBF3
6 0.851 0.240 10 129957300 missense variant C/T snv 0.700 0
dbSNP: rs1057519465
rs1057519465
HEXA
7 0.925 0.160 15 72346598 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs1057519466
rs1057519466
HEXA
7 0.925 0.160 15 72346307 frameshift variant G/- del 0.700 0
dbSNP: rs1057521737
rs1057521737
EP300
11 0.827 0.240 22 41173768 missense variant T/C snv 0.700 0
dbSNP: rs1057524820
rs1057524820
SCN8A
33 0.776 0.280 12 51765746 missense variant G/A;T snv 0.700 0
dbSNP: rs1060499679
rs1060499679
GNPTAB
5 0.851 0.280 12 101770496 inframe deletion GTG/- delins 0.700 0