rs80338826, MYH9

N. diseases: 6
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 0.827 0.320 22 36305985 missense variant G/A snv 0.810 1.000 11 2000 2006
SEBASTIAN SYNDROME
CUI: C1854520
Disease: SEBASTIAN SYNDROME
13 0.827 0.320 22 36305985 missense variant G/A snv 0.710 1.000 1 2011 2011
Fechtner syndrome (disorder)
CUI: C0403445
Disease: Fechtner syndrome (disorder)
2 0.827 0.320 22 36305985 missense variant G/A snv 0.010 1.000 1 2002 2002
Hearing disability
CUI: C0848765
Disease: Hearing disability
2 0.827 0.320 22 36305985 missense variant G/A snv 0.010 1.000 1 2013 2013
Macrothrombocytopenia
CUI: C2751260
Disease: Macrothrombocytopenia
31 0.827 0.320 22 36305985 missense variant G/A snv 0.010 1.000 1 2013 2013
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.827 0.320 22 36305985 missense variant G/A snv 0.010 1.000 1 2016 2016