rs1554643168, PUF60

N. diseases: 7
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.
Aortic coarctation
CUI: C0003492
Disease: Aortic coarctation
6 0.851 0.160 8 143818077 splice acceptor variant T/C;G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.160 8 143818077 splice acceptor variant T/C;G snv 0.700 0
Hyperopia
CUI: C0020490
Disease: Hyperopia
29 0.851 0.160 8 143818077 splice acceptor variant T/C;G snv 0.700 0
Hypertrichosis
CUI: C0020555
Disease: Hypertrichosis
27 0.851 0.160 8 143818077 splice acceptor variant T/C;G snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.851 0.160 8 143818077 splice acceptor variant T/C;G snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.851 0.160 8 143818077 splice acceptor variant T/C;G snv 0.700 0
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.851 0.160 8 143818077 splice acceptor variant T/C;G snv 0.700 0