rs1085307135, PUF60

N. diseases: 5
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 absence of kidney
CUI: C0542519
Disease: Congenital absence of kidney
3 0.882 0.160 8 143818255 missense variant C/T snv 0.700 0
Congenital ocular coloboma (disorder)
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
21 0.882 0.160 8 143818255 missense variant C/T snv 0.700 0
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.882 0.160 8 143818255 missense variant C/T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.882 0.160 8 143818255 missense variant C/T snv 0.700 0
VERHEIJ SYNDROME
CUI: C3810023
Disease: VERHEIJ SYNDROME
11 0.882 0.160 8 143818255 missense variant C/T snv 0.700 0