rs763028380, ABCC8

N. diseases: 12
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.
Bilateral Cryptorchidism
CUI: C0431663
Disease: Bilateral Cryptorchidism
9 0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
Broad forehead
CUI: C1849089
Disease: Broad forehead
13 0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
42 0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
Large fleshy ears
CUI: C3808403
Disease: Large fleshy ears
3 0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
Large for gestational age
CUI: C1848395
Disease: Large for gestational age
10 0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
Long philtrum
CUI: C1865014
Disease: Long philtrum
16 0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
Pointed chin
CUI: C1844505
Disease: Pointed chin
13 0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
Retrognathia
CUI: C3494422
Disease: Retrognathia
11 0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
Triangular face
CUI: C1835884
Disease: Triangular face
16 0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0