rs28939668, JAG1

N. diseases: 6
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.
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
83 0.807 0.200 20 10652533 missense variant C/T snv 0.830 1.000 4 2001 2010
Alagille Syndrome 1
CUI: C1956125
Disease: Alagille Syndrome 1
48 0.807 0.200 20 10652533 missense variant C/T snv 0.700 0
AICARDI-GOUTIERES SYNDROME
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
12 0.807 0.200 20 10652533 missense variant C/T snv 0.010 1.000 1 2003 2003
Alagille Syndrome
CUI: C0085280
Disease: Alagille Syndrome
18 0.807 0.200 20 10652533 missense variant C/T snv 0.010 1.000 1 2009 2009
Congenital absence of liver
CUI: C0266258
Disease: Congenital absence of liver
2 0.807 0.200 20 10652533 missense variant C/T snv 0.010 1.000 1 2003 2003
Peripheral pulmonary artery stenosis
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
3 0.807 0.200 20 10652533 missense variant C/T snv 0.010 1.000 1 2003 2003