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: 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
dbSNP: rs8058517
rs8058517 		16 68345957 intron variant C/T snv 0.15
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2009 2009
dbSNP: rs762515973
rs762515973 		1.000 16 68346248 missense variant A/G snv 4.8E-05 7.0E-06
CUI: C4310689
Disease: SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 		0.800 1.000 1 2015 2015
dbSNP: rs751670999
rs751670999 		1.000 16 68352314 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C4310689
Disease: SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 		0.800 1.000 1 2015 2015
dbSNP: rs3785119
rs3785119 		16 68340531 intron variant G/A;T snv
CUI: C0005910
Disease: Body Weight
Body Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2017 2017
dbSNP: rs2307022
rs2307022 		16 68348075 intron variant A/G snv 0.70
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 4 2015 2019
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: rs1567721991
rs1567721991 		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 		0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
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: rs1567690011
rs1567690011 		0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C4021535
Disease: Infantile sensorineural hearing impairment
Infantile sensorineural hearing impairment 		0.700 0
dbSNP: rs1567690011
rs1567690011 		0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1567690011
rs1567690011 		0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1567690011
rs1567690011 		0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1567690011
rs1567690011 		0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1567690011
rs1567690011 		0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1567690011
rs1567690011 		0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		0.700 0
dbSNP: rs1567690011
rs1567690011 		0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C4310689
Disease: SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 		0.700 0
dbSNP: rs1567690011
rs1567690011 		0.882 0.080 16 68337496 frameshift variant AG/- delins
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		0.700 0