rs121913657, MYH9

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.
May-Hegglin anomaly
CUI: C0340978
Disease: May-Hegglin anomaly
19 0.882 0.160 22 36348950 missense variant G/A snv 0.800 1.000 11 2000 2006
SEBASTIAN SYNDROME
CUI: C1854520
Disease: SEBASTIAN SYNDROME
13 0.882 0.160 22 36348950 missense variant G/A snv 0.710 1.000 1 2002 2002
DEAFNESS, AUTOSOMAL DOMINANT 17
CUI: C1863659
Disease: DEAFNESS, AUTOSOMAL DOMINANT 17
2 0.882 0.160 22 36348950 missense variant G/A snv 0.700 1.000 5 2002 2016
Chronic otitis media
CUI: C0271441
Disease: Chronic otitis media
6 0.882 0.160 22 36348950 missense variant G/A snv 0.010 1.000 1 2013 2013