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: rs78290141
rs78290141
PMM2 ; LOC100130283
1.000 0.080 16 8847731 missense variant A/G;T snv 2.4E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.810 1.000 0 1997 2007
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: rs80338702
rs80338702
PMM2
1.000 0.080 16 8811126 missense variant T/C snv 9.9E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.800 1.000 0 1997 2007
dbSNP: rs80338705
rs80338705
PMM2 ; LOC100130283
1.000 0.080 16 8847737 missense variant A/G;T 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: 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: 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: 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: 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: 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: 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: 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
dbSNP: rs141498002
rs141498002
PMM2
0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.700 0
dbSNP: rs141498002
rs141498002
PMM2
0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 0
dbSNP: rs141498002
rs141498002
PMM2
0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.700 0
dbSNP: rs141498002
rs141498002
PMM2
0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		0.700 0
dbSNP: rs141498002
rs141498002
PMM2
0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.700 0