MAPK3, mitogen-activated protein kinase 3, 5595

N. diseases: 647; N. variants: 7
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: rs11865086
rs11865086 		1.000 0.120 16 30119172 intron variant C/A snv 0.55
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1359519711
rs1359519711 		1.000 0.040 16 30117672 missense variant A/G snv 4.0E-06
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1430679556
rs1430679556 		1.000 0.080 16 30118408 missense variant C/T snv 7.1E-06
CUI: C1833219
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs147961867
rs147961867 		0.882 0.120 16 30121998 missense variant T/C snv 5.6E-05 2.8E-05
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs147961867
rs147961867 		0.882 0.120 16 30121998 missense variant T/C snv 5.6E-05 2.8E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs147961867
rs147961867 		0.882 0.120 16 30121998 missense variant T/C snv 5.6E-05 2.8E-05
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs55859133
rs55859133 		1.000 0.080 16 30116944 missense variant C/T snv 1.7E-03 1.4E-03
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs778826879
rs778826879 		16 30121948 missense variant C/G;T snv 1.2E-05; 8.0E-06
CUI: C0001430
Disease: Adenoma
Adenoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs778826879
rs778826879 		16 30121948 missense variant C/G;T snv 1.2E-05; 8.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs778826879
rs778826879 		16 30121948 missense variant C/G;T snv 1.2E-05; 8.0E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs955881745
rs955881745 		1.000 0.040 16 30123178 missense variant C/A;G snv 3.6E-05
CUI: C0334565
Disease: Adenoameloblastoma
Adenoameloblastoma 		Neoplasms 0.010 1.000 1 2019 2019