PUF60, poly(U) binding splicing factor 60, 22827

N. diseases: 188; N. variants: 24
Disease: Short stature ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1085307135
rs1085307135 		0.882 0.160 8 143818255 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1085307138
rs1085307138 		0.807 0.160 8 143817591 splice donor variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1085307139
rs1085307139 		0.925 0.040 8 143817380 frameshift variant -/C delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1554643168
rs1554643168 		0.851 0.160 8 143818077 splice acceptor variant T/C;G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0