rs786205050, CACNA1H

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
HYPERALDOSTERONISM, FAMILIAL, TYPE IV
CUI: C4310756
Disease: HYPERALDOSTERONISM, FAMILIAL, TYPE IV
3 0.827 0.080 16 1212024 missense variant A/G snv 7.0E-06 0.800 0
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.827 0.080 16 1212024 missense variant A/G snv 7.0E-06 0.710 1.000 1 2016 2016
Conn Syndrome
CUI: C1384514
Disease: Conn Syndrome
25 0.827 0.080 16 1212024 missense variant A/G snv 7.0E-06 0.700 0
Renin decreased
CUI: C0855389
Disease: Renin decreased
1 0.827 0.080 16 1212024 missense variant A/G snv 7.0E-06 0.700 0
Adrenocortical carcinoma
CUI: C0206686
Disease: Adrenocortical carcinoma
46 0.827 0.080 16 1212024 missense variant A/G snv 7.0E-06 0.010 1.000 1 2016 2016
Hyperaldosteronism
CUI: C0020428
Disease: Hyperaldosteronism
6 0.827 0.080 16 1212024 missense variant A/G snv 7.0E-06 0.010 1.000 1 2016 2016
Malignant neoplasm of adrenal cortex
CUI: C0346402
Disease: Malignant neoplasm of adrenal cortex
1 0.827 0.080 16 1212024 missense variant A/G snv 7.0E-06 0.010 1.000 1 2016 2016