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: 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: 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: rs149170494
rs149170494 		1.000 16 68316074 missense variant G/C snv 1.2E-05 2.1E-05
CUI: C4310689
Disease: SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 		0.800 0
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: rs1111571
rs1111571 		16 68329278 intron variant G/A snv 0.79
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2017 2017
dbSNP: rs1111571
rs1111571 		16 68329278 intron variant G/A snv 0.79
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2017 2017
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: 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: rs1014959895
rs1014959895 		0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1014959895
rs1014959895 		0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1014959895
rs1014959895 		0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		Digestive System Diseases 0.700 0
dbSNP: rs1014959895
rs1014959895 		0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1014959895
rs1014959895 		0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1014959895
rs1014959895 		0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1014959895
rs1014959895 		0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		0.700 0
dbSNP: rs1014959895
rs1014959895 		0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1014959895
rs1014959895 		0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		0.700 0
dbSNP: rs1014959895
rs1014959895 		0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1014959895
rs1014959895 		0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1014959895
rs1014959895 		0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1014959895
rs1014959895 		0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs1014959895
rs1014959895 		0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1014959895
rs1014959895 		0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1014959895
rs1014959895 		0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C4310689
Disease: SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 		0.700 0
dbSNP: rs1251713297
rs1251713297 		0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		0.700 0