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: 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
dbSNP: rs141498002
rs141498002
PMM2
0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.700 0
dbSNP: rs1555448897
rs1555448897
PMM2
1.000 0.080 16 8801797 splice acceptor variant A/T snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 0
dbSNP: rs1555448922
rs1555448922
PMM2
1.000 0.080 16 8801912 splice donor variant T/G snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 0
dbSNP: rs1555449603
rs1555449603
PMM2
1.000 0.080 16 8811077 splice acceptor variant A/C snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 0
dbSNP: rs1555449604
rs1555449604
PMM2
1.000 0.080 16 8811078 splice acceptor variant G/C snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 0
dbSNP: rs1555449617
rs1555449617
PMM2
1.000 0.080 16 8811163 missense variant C/A snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 0
dbSNP: rs1555449780
rs1555449780
PMM2
1.000 0.080 16 8812989 splice acceptor variant A/G snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 0
dbSNP: rs1555495965
rs1555495965
PMM2 ; TMEM186
1.000 0.080 16 8797948 splice donor variant G/- delins
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.700 0
dbSNP: rs190521996
rs190521996
PMM2
0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.700 0
dbSNP: rs190521996
rs190521996
PMM2
0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0