Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1567721991
rs1567721991
PRMT7
CUI: C4021535
Disease: Infantile sensorineural hearing impairment
Infantile sensorineural hearing impairment 		TGCTCTCCG 0.700 CausalMutation CLINVAR

dbSNP: rs1567721991
rs1567721991
PRMT7
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		TGCTCTCCG 0.700 CausalMutation CLINVAR

dbSNP: rs1567721991
rs1567721991
PRMT7
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		TGCTCTCCG 0.700 CausalMutation CLINVAR

dbSNP: rs1567721991
rs1567721991
PRMT7
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		TGCTCTCCG 0.700 CausalMutation CLINVAR

dbSNP: rs1567721991
rs1567721991
PRMT7
CUI: C4310689
Disease: SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 		TGCTCTCCG 0.700 CausalMutation CLINVAR

dbSNP: rs1567721991
rs1567721991
PRMT7
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		TGCTCTCCG 0.700 CausalMutation CLINVAR

dbSNP: rs1567721991
rs1567721991
PRMT7
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		TGCTCTCCG 0.700 CausalMutation CLINVAR

dbSNP: rs1567721991
rs1567721991
PRMT7
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		TGCTCTCCG 0.700 CausalMutation CLINVAR

dbSNP: rs1567721991
rs1567721991
PRMT7
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		TGCTCTCCG 0.700 CausalMutation CLINVAR