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: rs886037858
rs886037858
NUS1
2 1.000 6 117707002 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs864309660
rs864309660
SLC39A8
2 1.000 4 102267916 missense variant C/G snv 0.010 1.000 1 2015 2015
dbSNP: rs863225089
rs863225089
MOGS
2 1.000 0.080 2 74464919 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs794727301
rs794727301
ALG1
2 1.000 0.080 16 5073004 missense variant T/G snv 7.0E-06 0.700 0
dbSNP: rs794727073
rs794727073
ALG1
1 16 5083680 splice acceptor variant A/G snv 2.1E-05 0.700 0
dbSNP: rs794726944
rs794726944
ALG1
2 1.000 0.080 16 5071998 missense variant A/G snv 4.6E-06 0.700 0
dbSNP: rs779241085
rs779241085
SLC39A8
2 1.000 4 102305054 missense variant C/A snv 6.4E-05 4.9E-05 0.010 1.000 1 2015 2015
dbSNP: rs765191836
rs765191836
SRD5A3 ; SRD5A3-AS1
3 1.000 4 55367628 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs753961807
rs753961807
MOGS
1 2 74465183 missense variant G/C;T snv 1.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs752922461
rs752922461
ALG1
1 16 5071864 stop gained C/A;G;T snv 8.6E-06; 4.3E-06; 2.6E-05 0.700 0
dbSNP: rs752307253
rs752307253
SRD5A3 ; SRD5A3-AS1
1 4 55364274 splice region variant G/- del 3.2E-05 1.4E-05 0.700 0
dbSNP: rs746019074
rs746019074
ALG1
2 1.000 0.080 16 5083744 frameshift variant -/TG ins 1.3E-05; 8.5E-06 2.1E-05 0.700 0
dbSNP: rs727503904
rs727503904
DOLK ; NUP188
1 9 128945857 missense variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs587777323
rs587777323
MOGS
3 0.925 0.080 2 74464705 stop gained G/A snv 1.6E-05 7.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs587777116
rs587777116
DPM1 ; ADNP-AS1
2 1.000 0.080 20 50942070 missense variant C/A snv 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs4630153
rs4630153
ALG6
2 1.000 0.080 1 63415881 missense variant C/T snv 0.75 0.76 0.020 1.000 2 2002 2012
dbSNP: rs398124401
rs398124401
SRD5A3
26 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
dbSNP: rs398124349
rs398124349
ALG1
2 1.000 0.080 16 5082648 missense variant C/T snv 0.700 0
dbSNP: rs398124348
rs398124348
ALG1
2 1.000 0.080 16 5082565 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs398123609
rs398123609
DPAGT1 ; LOC107984397
1 11 119100774 missense variant G/C snv 0.010 1.000 1 2015 2015
dbSNP: rs387907203
rs387907203
COG4
2 1.000 16 70481062 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs387907202
rs387907202
COG4
2 1.000 16 70512280 stop gained C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs374928784
rs374928784
ALG1
1 16 5082674 splice donor variant G/A snv 1.6E-05 0.700 0
dbSNP: rs373562040
rs373562040
SLC39A8
2 1.000 4 102344566 missense variant C/A;T snv 6.4E-04 0.010 1.000 1 2015 2015
dbSNP: rs373260156
rs373260156
MAGT1
3 1.000 X 77830825 missense variant T/C;G snv 1.2E-05 0.700 0