rs138977195, SLC12A3

N. diseases: 5
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.
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
120 1.000 0.120 16 56887967 missense variant G/A snv 3.7E-04 4.1E-04 0.800 1.000 21 1996 2016
Hypermagnesemia result
CUI: C1522135
Disease: Hypermagnesemia result
1 1.000 0.120 16 56887967 missense variant G/A snv 3.7E-04 4.1E-04 0.700 0
Hypokalemia
CUI: C0020621
Disease: Hypokalemia
7 1.000 0.120 16 56887967 missense variant G/A snv 3.7E-04 4.1E-04 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 1.000 0.120 16 56887967 missense variant G/A snv 3.7E-04 4.1E-04 0.700 0
Myalgia
CUI: C0231528
Disease: Myalgia
22 1.000 0.120 16 56887967 missense variant G/A snv 3.7E-04 4.1E-04 0.700 0