GFRA1, GDNF family receptor alpha 1, 2674

N. diseases: 73; 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: rs10885877
rs10885877 		10 116206578 intron variant C/A;G;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11197571
rs11197571 		1.000 0.080 10 116183122 intron variant A/G snv 0.13
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1679568
rs1679568 		1.000 0.120 10 116058040 3 prime UTR variant G/A snv 0.23
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs17094393
rs17094393 		0.925 0.040 10 116232050 intron variant C/T snv 2.2E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs17094393
rs17094393 		0.925 0.040 10 116232050 intron variant C/T snv 2.2E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs3781545
rs3781545 		1.000 0.040 10 116189948 intron variant G/A snv 0.14
CUI: C0338480
Disease: Common Migraine
Common Migraine 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4269847
rs4269847 		10 116231590 intron variant A/G;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11197557
rs11197557 		1.000 0.040 10 116158555 intron variant C/T snv 0.17
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs2245020
rs2245020 		1.000 10 116125439 missense variant G/A;C snv 0.57
CUI: C1833929
Disease: THYROID CARCINOMA, SPORADIC MEDULLARY
THYROID CARCINOMA, SPORADIC MEDULLARY 		0.010 1.000 1 2002 2002
dbSNP: rs730357
rs730357 		1.000 0.040 10 116259039 intron variant T/C snv 0.23
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs7920934
rs7920934 		1.000 0.040 10 116202914 intron variant A/G snv 0.29
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2010 2010