Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123001
rs398123001
PUF60
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
CUI: C0025990
Disease: Micrognathism
Micrognathism 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
CUI: C0038379
Disease: Strabismus
Strabismus 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1064795388
rs1064795388
PUF60 ; NRBP2 ; LOC107986985
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1064795388
rs1064795388
PUF60 ; NRBP2 ; LOC107986985
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1064795388
rs1064795388
PUF60 ; NRBP2 ; LOC107986985
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
Partial or complete agenesis of corpus callosum 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307132
rs1085307132
PUF60 ; SCRIB
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		GTTTT 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307132
rs1085307132
PUF60 ; SCRIB
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		GTTTT 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307132
rs1085307132
PUF60 ; SCRIB
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		GTTTT 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307132
rs1085307132
PUF60 ; SCRIB
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		GTTTT 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307132
rs1085307132
PUF60 ; SCRIB
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		GTTTT 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307134
rs1085307134
PUF60 ; SCRIB
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307134
rs1085307134
PUF60 ; SCRIB
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307135
rs1085307135
PUF60
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1085307135
rs1085307135
PUF60
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307135
rs1085307135
PUF60
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307135
rs1085307135
PUF60
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307135
rs1085307135
PUF60
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307137
rs1085307137
PUF60
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		T 0.700 GeneticVariation CLINVAR