PRMT7, protein arginine methyltransferase 7, 54496

N. diseases: 65; N. variants: 13
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: rs1567721991
rs1567721991 		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 		0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1567721991
rs1567721991 		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 		0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1567721991
rs1567721991 		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 		0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1567721991
rs1567721991 		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
dbSNP: rs201824659
rs201824659 		1.000 16 68346144 splice acceptor variant G/T snv 6.8E-05 7.7E-05
CUI: C4310689
Disease: SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 		0.700 0
dbSNP: rs886039897
rs886039897 		1.000 16 68347630 splice acceptor variant G/A snv 4.0E-06
CUI: C4310689
Disease: SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 		0.700 0