Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1085307135
rs1085307135
PUF60
0.882 0.160 8 143818255 missense variant C/T snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.700 0
dbSNP: rs1085307135
rs1085307135
PUF60
0.882 0.160 8 143818255 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1085307135
rs1085307135
PUF60
0.882 0.160 8 143818255 missense variant C/T snv
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney 		0.700 0
dbSNP: rs1085307135
rs1085307135
PUF60
0.882 0.160 8 143818255 missense variant C/T snv
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.700 0
dbSNP: rs1085307135
rs1085307135
PUF60
0.882 0.160 8 143818255 missense variant C/T snv
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.700 0