rs141498002, PMM2

N. diseases: 8
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Congenital disorder of glycosylation type 1A
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
80 0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 0.800 1.000 22 1997 2015
Congenital diaphragmatic hernia
CUI: C0235833
Disease: Congenital diaphragmatic hernia
31 0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 0.700 0
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 0.700 0
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 0.700 0
Hypoplasia of nipple
CUI: C0432355
Disease: Hypoplasia of nipple
1 0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 0.700 0
Leukomalacia, Periventricular
CUI: C0023529
Disease: Leukomalacia, Periventricular
10 0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 0.700 0
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 0.700 0
Wide spaced nipples
CUI: C1827524
Disease: Wide spaced nipples
19 0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 0.700 0