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: rs199562225
rs199562225
PMM2
2 1.000 0.080 16 8813047 stop gained C/T snv 2.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs370434427
rs370434427
ALG3
2 1.000 0.080 3 184245562 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs387907202
rs387907202
COG4
2 1.000 16 70512280 stop gained C/A;T snv 0.010 1.000 1 2011 2011
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: rs1569547876
rs1569547876
MAGT1
4 1.000 X 77841252 stop gained G/A snv 0.700 0
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: 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: rs765191836
rs765191836
SRD5A3 ; SRD5A3-AS1
3 1.000 4 55367628 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs28939378
rs28939378
ALG1
3 0.925 0.160 16 5078789 missense variant C/T snv 3.0E-04 3.5E-04 0.700 1.000 8 2004 2017
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: rs121908023
rs121908023
ALG9
2 1.000 0.080 11 111853415 missense variant T/C snv 6.0E-05 3.5E-05 0.010 1.000 1 2009 2009
dbSNP: rs1420712806
rs1420712806
ALG3
1 3 184245330 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs151319324
rs151319324
PMM2 ; LOC100130283
2 1.000 0.080 16 8847797 missense variant G/A;C snv 5.7E-04; 8.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs16835020
rs16835020
ALG1 ; EEF2KMT
2 1.000 0.080 16 5084798 missense variant C/T snv 4.3E-06; 8.6E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs28936415
rs28936415
PMM2
22 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.710 1.000 1 2000 2000
dbSNP: rs35383149
rs35383149
ALG6
2 1.000 0.080 1 63406361 missense variant T/C snv 3.0E-02 2.9E-02 0.010 1.000 1 2012 2012
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: 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: rs398123609
rs398123609
DPAGT1 ; LOC107984397
1 11 119100774 missense variant G/C snv 0.010 1.000 1 2015 2015
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: rs727503904
rs727503904
DOLK ; NUP188
1 9 128945857 missense variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs753961807
rs753961807
MOGS
1 2 74465183 missense variant G/C;T snv 1.5E-05 0.010 1.000 1 2016 2016
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: 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: rs864309660
rs864309660
SLC39A8
2 1.000 4 102267916 missense variant C/G snv 0.010 1.000 1 2015 2015