Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555740394
rs1555740394
PRR12
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		CCCCACCA 0.700 CausalMutation CLINVAR

dbSNP: rs1555740394
rs1555740394
PRR12
CUI: C1854301
Disease: Motor delay
Motor delay 		CCCCACCA 0.700 CausalMutation CLINVAR

dbSNP: rs1555740394
rs1555740394
PRR12
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		CCCCACCA 0.700 CausalMutation CLINVAR

dbSNP: rs1555740394
rs1555740394
PRR12
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		CCCCACCA 0.700 CausalMutation CLINVAR

dbSNP: rs1555740394
rs1555740394
PRR12
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		CCCCACCA 0.700 CausalMutation CLINVAR

dbSNP: rs1555740650
rs1555740650
PRR12
CUI: C0151526
Disease: Premature Birth
Premature Birth 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555740650
rs1555740650
PRR12
CUI: C1854301
Disease: Motor delay
Motor delay 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555740650
rs1555740650
PRR12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555740650
rs1555740650
PRR12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555740650
rs1555740650
PRR12
CUI: C1866933
Disease: Structural brain abnormalities
Structural brain abnormalities 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555740650
rs1555740650
PRR12
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555740650
rs1555740650
PRR12
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555740650
rs1555740650
PRR12
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555740650
rs1555740650
PRR12
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555740650
rs1555740650
PRR12
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555740650
rs1555740650
PRR12
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555740650
rs1555740650
PRR12
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555740650
rs1555740650
PRR12
CUI: C0015310
Disease: Exotropia
Exotropia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555741826
rs1555741826
PRR12
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1555741826
rs1555741826
PRR12
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1555741826
rs1555741826
PRR12
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1555741826
rs1555741826
PRR12
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1555741826
rs1555741826
PRR12
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1555741826
rs1555741826
PRR12
CUI: C0240953
Disease: Winged scapula
Winged scapula 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1555741826
rs1555741826
PRR12
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		G 0.700 CausalMutation CLINVAR