rs991104525, ARSB

N. diseases: 4
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.
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
124 0.882 0.160 5 78969051 missense variant G/A snv 1.2E-05 7.7E-05 0.810 1.000 12 1994 2014
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
165 0.882 0.160 5 78969051 missense variant G/A snv 1.2E-05 7.7E-05 0.010 1.000 1 2013 2013
Heart failure
CUI: C0018801
Disease: Heart failure
201 0.882 0.160 5 78969051 missense variant G/A snv 1.2E-05 7.7E-05 0.010 1.000 1 2013 2013
Heart valve disease
CUI: C0018824
Disease: Heart valve disease
5 0.882 0.160 5 78969051 missense variant G/A snv 1.2E-05 7.7E-05 0.010 1.000 1 2013 2013