Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1567721991
rs1567721991
PRMT7
0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		0.700 0
dbSNP: rs1567721991
rs1567721991
PRMT7
0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		0.700 0
dbSNP: rs1567721991
rs1567721991
PRMT7
0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1567721991
rs1567721991
PRMT7
0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.700 0
dbSNP: rs1567721991
rs1567721991
PRMT7
0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins
CUI: C4021535
Disease: Infantile sensorineural hearing impairment
Infantile sensorineural hearing impairment 		0.700 0
dbSNP: rs1567721991
rs1567721991
PRMT7
0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.700 0
dbSNP: rs1567721991
rs1567721991
PRMT7
0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.700 0
dbSNP: rs1567721991
rs1567721991
PRMT7
0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1567721991
rs1567721991
PRMT7
0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins
CUI: C4310689
Disease: SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 		0.700 0