rs371443644, SLC12A3

N. diseases: 2
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 0.925 0.160 16 56865414 missense variant C/T snv 5.6E-05 4.2E-05 0.830 1.000 26 1996 2016
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.925 0.160 16 56865414 missense variant C/T snv 5.6E-05 4.2E-05 0.010 1.000 1 2009 2009