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: 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: 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: 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: rs80338708
rs80338708
PMM2 ; LOC100130283
1.000 0.080 16 8847794 missense variant C/G;T snv 1.3E-04; 4.4E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 1.000 9 1997 2016
dbSNP: rs104894527
rs104894527
PMM2
1.000 0.080 16 8804781 missense variant G/T snv 7.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 1.000 8 1997 2011
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: rs80338709
rs80338709
PMM2 ; LOC100130283
0.925 0.080 16 8847806 missense variant G/C snv 6.0E-05 2.7E-04
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 1.000 8 1997 2015
dbSNP: rs150577656
rs150577656
PMM2
1.000 0.080 16 8811648 stop gained T/A;C;G snv 1.6E-05; 4.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 1.000 7 1997 2014
dbSNP: rs80338707
rs80338707
PMM2 ; LOC100130283
0.925 0.080 16 8847775 missense variant G/A;C snv 6.8E-05; 4.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 1.000 6 1997 2016
dbSNP: rs150719105
rs150719105
PMM2
1.000 0.080 16 8811161 missense variant T/C snv 1.6E-04 6.3E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 1.000 5 1997 2017
dbSNP: rs398123312
rs398123312
PMM2
0.925 0.080 16 8801827 missense variant TA/GC mnv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 1.000 5 1997 2015
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: rs148032587
rs148032587
PMM2
0.925 0.080 16 8811173 missense variant G/A snv 1.6E-04 1.3E-04
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 1.000 4 1997 2011
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: rs769648248
rs769648248
PMM2
1.000 0.080 16 8804793 missense variant C/G;T snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 1.000 4 1997 2012
dbSNP: rs80338704
rs80338704
PMM2
1.000 0.080 16 8813030 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 1.000 4 1997 2008
dbSNP: rs104894525
rs104894525
PMM2
1.000 0.080 16 8811116 missense variant G/A;T snv 1.0E-05; 5.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 1.000 3 1997 2015
dbSNP: rs104894534
rs104894534
PMM2
1.000 0.080 16 8801863 missense variant T/C snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 1.000 3 1997 2015
dbSNP: rs200503569
rs200503569
PMM2
1.000 0.080 16 8806383 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 1.000 3 2005 2015
dbSNP: rs746610168
rs746610168
PMM2
1.000 0.080 16 8811152 missense variant C/T snv 2.1E-05 3.5E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 1.000 3 1997 2015
dbSNP: rs80338703
rs80338703
PMM2
1.000 0.080 16 8811146 missense variant G/A snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.820 1.000 3 1997 2007
dbSNP: rs104894526
rs104894526
PMM2
1.000 0.080 16 8811674 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 1.000 2 1997 2011