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: 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: 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: rs151173406
rs151173406
ALG1
2 1.000 0.080 16 5078842 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
dbSNP: rs1569547876
rs1569547876
MAGT1
4 1.000 X 77841252 stop gained G/A snv 0.700 0
dbSNP: rs369160589
rs369160589
ALG1
35 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
dbSNP: rs373260156
rs373260156
MAGT1
3 1.000 X 77830825 missense variant T/C;G snv 1.2E-05 0.700 0
dbSNP: rs374928784
rs374928784
ALG1
1 16 5082674 splice donor variant G/A snv 1.6E-05 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: rs398124349
rs398124349
ALG1
2 1.000 0.080 16 5082648 missense variant C/T 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: 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: rs752307253
rs752307253
SRD5A3 ; SRD5A3-AS1
1 4 55364274 splice region variant G/- del 3.2E-05 1.4E-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: rs794726944
rs794726944
ALG1
2 1.000 0.080 16 5071998 missense variant A/G snv 4.6E-06 0.700 0
dbSNP: rs794727073
rs794727073
ALG1
1 16 5083680 splice acceptor variant A/G snv 2.1E-05 0.700 0
dbSNP: rs794727301
rs794727301
ALG1
2 1.000 0.080 16 5073004 missense variant T/G snv 7.0E-06 0.700 0
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: rs1276918786
rs1276918786
MPI
1 15 74897133 frameshift variant CT/- delins 8.0E-06 0.010 1.000 1 2002 2002
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: 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: 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