MAPK7, mitogen-activated protein kinase 7, 5598

N. diseases: 127; N. variants: 6
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: rs147296805
rs147296805 		17 19381095 missense variant G/A;T snv 5.0E-04; 8.0E-06
CUI: C2700406
Disease: SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (finding)
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (finding) 		0.700 1.000 1 2017 2017
dbSNP: rs1555613564
rs1555613564 		17 19382246 missense variant C/T snv
CUI: C2700406
Disease: SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (finding)
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (finding) 		0.700 1.000 1 2017 2017
dbSNP: rs2233074
rs2233074 		17 19380758 synonymous variant G/A;C snv 2.4E-05; 1.1E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2233083
rs2233083 		1.000 0.080 17 19383150 synonymous variant C/T snv 1.1E-02 5.1E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs758163506
rs758163506 		17 19382063 missense variant C/T snv 9.9E-06 7.0E-06
CUI: C2700406
Disease: SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (finding)
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (finding) 		0.700 1.000 1 2017 2017
dbSNP: rs3866958
rs3866958 		0.882 0.080 17 19377693 intron variant A/C;T snv 0.89
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3866958
rs3866958 		0.882 0.080 17 19377693 intron variant A/C;T snv 0.89
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3866958
rs3866958 		0.882 0.080 17 19377693 intron variant A/C;T snv 0.89
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013