ARHGAP42, Rho GTPase activating protein 42, 143872

N. diseases: 25; N. variants: 14
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: rs633185
rs633185 		0.925 0.080 11 100722807 intron variant G/A;C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.800 1.000 2 2011 2018
dbSNP: rs633185
rs633185 		0.925 0.080 11 100722807 intron variant G/A;C snv
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.800 1.000 2 2011 2019
dbSNP: rs633185
rs633185 		0.925 0.080 11 100722807 intron variant G/A;C snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 8 2011 2018
dbSNP: rs633185
rs633185 		0.925 0.080 11 100722807 intron variant G/A;C snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 6 2011 2018
dbSNP: rs604723
rs604723 		1.000 0.040 11 100739815 intron variant T/C snv 0.78
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 3 2015 2018
dbSNP: rs633185
rs633185 		0.925 0.080 11 100722807 intron variant G/A;C snv
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 3 2011 2018
dbSNP: rs604723
rs604723 		1.000 0.040 11 100739815 intron variant T/C snv 0.78
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2018 2019
dbSNP: rs604723
rs604723 		1.000 0.040 11 100739815 intron variant T/C snv 0.78
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 2 2018 2018
dbSNP: rs6590811
rs6590811 		11 100708153 intron variant C/T snv 0.53
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2018 2018
dbSNP: rs6590811
rs6590811 		11 100708153 intron variant C/T snv 0.53
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 2 2018 2018
dbSNP: rs6590816
rs6590816 		11 100730902 intron variant G/A snv 0.40
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 2 2018 2018
dbSNP: rs10895025
rs10895025 		11 100877772 intron variant T/C snv 0.63
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs1502284
rs1502284 		11 100713419 intron variant T/A;G snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs1502284
rs1502284 		11 100713419 intron variant T/A;G snv
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs17654410
rs17654410 		0.925 0.040 11 100993415 3 prime UTR variant C/T snv 9.3E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs17654410
rs17654410 		0.925 0.040 11 100993415 3 prime UTR variant C/T snv 9.3E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs4754698
rs4754698 		1.000 0.040 11 100761177 intron variant C/A;G snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs486023
rs486023 		11 100772406 intron variant G/A snv 0.25
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs486023
rs486023 		11 100772406 intron variant G/A snv 0.25
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs604723
rs604723 		1.000 0.040 11 100739815 intron variant T/C snv 0.78
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs604723
rs604723 		1.000 0.040 11 100739815 intron variant T/C snv 0.78
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs604723
rs604723 		1.000 0.040 11 100739815 intron variant T/C snv 0.78
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2011 2011
dbSNP: rs604723
rs604723 		1.000 0.040 11 100739815 intron variant T/C snv 0.78
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs604723
rs604723 		1.000 0.040 11 100739815 intron variant T/C snv 0.78
CUI: C1305849
Disease: Diastolic blood pressure measurement
Diastolic blood pressure measurement 		0.700 1.000 1 2018 2018
dbSNP: rs604723
rs604723 		1.000 0.040 11 100739815 intron variant T/C snv 0.78
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018