UTRN, utrophin, 7402

N. diseases: 152; N. variants: 10
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: rs11155372
rs11155372 		0.925 0.040 6 144698602 intron variant G/C;T snv
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs11155372
rs11155372 		0.925 0.040 6 144698602 intron variant G/C;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs11155372
rs11155372 		0.925 0.040 6 144698602 intron variant G/C;T snv
CUI: C3158111
Disease: response to SSRI
response to SSRI 		0.700 1.000 1 2018 2018
dbSNP: rs4530873
rs4530873 		0.925 0.040 6 144666027 intron variant A/T snv 5.5E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs4530873
rs4530873 		0.925 0.040 6 144666027 intron variant A/T snv 5.5E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4895650
rs4895650 		6 144702986 intron variant T/A;C snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs6570628
rs6570628 		6 144428223 intron variant A/C;G;T snv
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs7738842
rs7738842 		6 144550577 intron variant G/A;C snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs9321987
rs9321987 		0.925 0.040 6 144709148 intron variant C/T snv 0.40
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs9321987
rs9321987 		0.925 0.040 6 144709148 intron variant C/T snv 0.40
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs9321987
rs9321987 		0.925 0.040 6 144709148 intron variant C/T snv 0.40
CUI: C3158111
Disease: response to SSRI
response to SSRI 		0.700 1.000 1 2018 2018
dbSNP: rs1918752
rs1918752 		1.000 0.080 6 144587941 intron variant A/T snv 0.22
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs770771727
rs770771727 		0.882 0.040 6 144751941 missense variant A/C;G snv 4.5E-05; 2.5E-05
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs770771727
rs770771727 		0.882 0.040 6 144751941 missense variant A/C;G snv 4.5E-05; 2.5E-05
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs770771727
rs770771727 		0.882 0.040 6 144751941 missense variant A/C;G snv 4.5E-05; 2.5E-05
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs776165919
rs776165919 		1.000 0.080 6 144437643 missense variant G/A snv 8.8E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs9390170
rs9390170 		1.000 0.080 6 144530548 intron variant G/C snv 0.11
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017