MAPK8, mitogen-activated protein kinase 8, 5599

N. diseases: 520; N. variants: 4
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: rs10857560
rs10857560
1.000 0.040 10 48386197 intron variant A/C snv 0.50
CUI: C3696954
Disease: Precapillary pulmonary hypertension
Precapillary pulmonary hypertension
Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10857561
rs10857561
1.000 0.080 10 48400595 intron variant G/A snv 0.29
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1348073540
rs1348073540
10 48431259 missense variant C/G;T snv 4.0E-06
CUI: C0949664
Disease: Tauopathies
Tauopathies
Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs17780725
rs17780725
1.000 0.080 10 48422844 intron variant G/A snv 0.17
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
Digestive System Diseases; Infections 0.010 1.000 1 2018 2018