rs74315289, BSND

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.
BARTTER SYNDROME, TYPE 4A
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
6 0.827 0.280 1 54999325 missense variant G/A snv 1.0E-04 1.5E-04 0.810 1.000 11 2001 2016
Bartter Disease
CUI: C0004775
Disease: Bartter Disease
8 0.827 0.280 1 54999325 missense variant G/A snv 1.0E-04 1.5E-04 0.050 1.000 5 2003 2015
Congenital deafness
CUI: C0339789
Disease: Congenital deafness
11 0.827 0.280 1 54999325 missense variant G/A snv 1.0E-04 1.5E-04 0.010 1.000 1 2003 2003
Renal Insufficiency
CUI: C1565489
Disease: Renal Insufficiency
42 0.827 0.280 1 54999325 missense variant G/A snv 1.0E-04 1.5E-04 0.010 1.000 1 2011 2011
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.827 0.280 1 54999325 missense variant G/A snv 1.0E-04 1.5E-04 0.010 1.000 1 2003 2003