Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80338706
rs80338706
PMM2 ; LOC100130283
1.000 0.080 16 8847761 missense variant C/G snv 4.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 1.000 0 1997 2007
dbSNP: rs28936415
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.740 1.000 10 1997 2015
dbSNP: rs199562225
rs199562225
PMM2
1.000 0.080 16 8813047 stop gained C/T snv 2.4E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.720 1.000 1 2003 2015
dbSNP: rs1057517110
rs1057517110
PMM2
0.925 0.160 16 8811086 missense variant T/C snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.720 1.000 0 2001 2003
dbSNP: rs755008774
rs755008774
PMM2
1.000 0.080 16 8811144 frameshift variant A/- delins
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.720 1.000 0 1999 2005
dbSNP: rs28936415
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.710 1.000 0 2000 2000
dbSNP: rs190521996
rs190521996
PMM2
0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 1.000 15 1999 2015
dbSNP: rs148032587
rs148032587
PMM2
0.925 0.080 16 8811173 missense variant G/A snv 1.6E-04 1.3E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1997 2017
dbSNP: rs28936415
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 12 1997 2017
dbSNP: rs760265100
rs760265100
PMM2 ; TMEM186
16 8797935 missense variant C/G snv 1.7E-05 1.4E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 12 1997 2017
dbSNP: rs80338701
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 12 1997 2017
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
1.000 0.080 16 8847794 missense variant C/G;T snv 1.3E-04; 4.4E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 12 1997 2017
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
1.000 0.080 16 8847794 missense variant C/G;T snv 1.3E-04; 4.4E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 12 1997 2017
dbSNP: rs80338709
rs80338709
PMM2 ; LOC100130283
0.925 0.080 16 8847806 missense variant G/C snv 6.0E-05 2.7E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1997 2017
dbSNP: rs398123309
rs398123309
PMM2
1.000 0.080 16 8813090 missense variant G/A;C snv 4.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 1.000 9 1998 2017
dbSNP: rs139716296
rs139716296
PMM2
1.000 0.080 16 8804845 splice donor variant T/C snv 6.8E-05 7.0E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 1.000 8 1999 2014
dbSNP: rs1258107584
rs1258107584
PMM2
1.000 0.080 16 8832245 intron variant C/T snv 3.5E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 1.000 4 2007 2016
dbSNP: rs368582085
rs368582085
PMM2
1.000 0.080 16 8811090 missense variant T/C snv 8.6E-05 7.0E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 1.000 4 2000 2017
dbSNP: rs1060499598
rs1060499598
PMM2
1.000 0.080 16 8804844 splice donor variant G/A snv 1.2E-05 2.1E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 1.000 2 2005 2009
dbSNP: rs1555448899
rs1555448899
PMM2
1.000 0.080 16 8801836 stop gained T/A snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 1.000 2 2008 2015
dbSNP: rs1057516323
rs1057516323
PMM2
1.000 0.080 16 8811700 frameshift variant -/A delins
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 1.000 1 2015 2015
dbSNP: rs1274794195
rs1274794195
PMM2
1.000 0.080 16 8811636 splice acceptor variant GAAA/- delins 4.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 1.000 1 2003 2003
dbSNP: rs1339004837
rs1339004837
PMM2
1.000 0.080 16 8804778 frameshift variant T/- del
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 1.000 1 2017 2017
dbSNP: rs1555449314
rs1555449314
PMM2
1.000 0.080 16 8806384 frameshift variant G/- del
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 1.000 1 1998 1998
dbSNP: rs104894533
rs104894533
PMM2
0.925 0.080 16 8801827 missense variant T/G snv 8.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 0