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

N. diseases: 188; N. variants: 24
Disease: VERHEIJ SYNDROME ×
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: rs398123001
rs398123001 		0.925 8 143818378 missense variant G/A snv
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.800 1.000 1 2013 2013
dbSNP: rs1057518681
rs1057518681 		0.827 0.200 8 143816821 splice acceptor variant T/C snv
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.700 0
dbSNP: rs1085307135
rs1085307135 		0.882 0.160 8 143818255 missense variant C/T snv
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.700 0
dbSNP: rs1131692232
rs1131692232 		0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.700 0
dbSNP: rs1554642022
rs1554642022 		0.851 0.200 8 143816981 stop gained G/A snv
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.700 0
dbSNP: rs1554642573
rs1554642573 		1.000 8 143817402 frameshift variant AG/GGGGCTGGGCCAGGGTCAA delins
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.700 0
dbSNP: rs1554643584
rs1554643584 		1.000 8 143818494 missense variant C/T snv
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.700 0
dbSNP: rs1563818514
rs1563818514 		1.000 8 143816752 missense variant A/G snv
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.700 0
dbSNP: rs1563819620
rs1563819620 		1.000 8 143816948 stop gained G/A snv
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.700 0
dbSNP: rs1563823411
rs1563823411 		1.000 8 143817699 stop gained T/A snv
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.700 0
dbSNP: rs1563826453
rs1563826453 		1.000 8 143818473 frameshift variant TAGA/- delins
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.700 0