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: 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: 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
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: rs104894530
rs104894530
PMM2
1.000 0.080 16 8811080 missense variant G/C snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 1.000 0 1997 2007
dbSNP: rs104894531
rs104894531
PMM2 ; LOC100130283
1.000 0.080 16 8847753 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 0 1997 2007
dbSNP: rs104894532
rs104894532
PMM2 ; TMEM186
1.000 0.080 16 8797908 missense variant G/A;T snv 4.1E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 1.000 0 1997 2007
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
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: 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: rs1057516372
rs1057516372
PMM2
1.000 0.080 16 8806314 splice acceptor variant A/G snv 4.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 0
dbSNP: rs1057516757
rs1057516757
PMM2
1.000 0.080 16 8806404 frameshift variant -/G delins
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 0
dbSNP: rs1057516815
rs1057516815
PMM2
1.000 0.080 16 8804773 frameshift variant A/- delins
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 0
dbSNP: rs1057516886
rs1057516886
PMM2
1.000 0.080 16 8813027 stop gained G/A snv 7.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 0
dbSNP: rs1057516943
rs1057516943
PMM2 ; TMEM186
1.000 0.080 16 8797909 stop gained C/A;T snv 4.1E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 0
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: rs1057517117
rs1057517117
PMM2
1.000 0.080 16 8806408 splice donor variant G/A snv 4.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 0
dbSNP: rs1057517183
rs1057517183
PMM2
1.000 0.080 16 8813107 splice donor variant G/A snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 0
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: rs1166138838
rs1166138838
PMM2
1.000 0.080 16 8804766 splice acceptor variant G/C;T snv 4.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 0
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: 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: 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: rs141498002
rs141498002
PMM2
0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 1.000 10 1997 2015
dbSNP: rs141498002
rs141498002
PMM2
0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular 		0.700 0