rs80338827, 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 0.320 22 36305984 missense variant C/T snv 7.0E-06 0.810 1.000 11 2000 2006
SEBASTIAN SYNDROME
CUI: C1854520
Disease: SEBASTIAN SYNDROME
13 0.882 0.320 22 36305984 missense variant C/T snv 7.0E-06 0.710 1.000 2 2002 2019
Epstein syndrome (disorder)
CUI: C0398641
Disease: Epstein syndrome (disorder)
1 0.882 0.320 22 36305984 missense variant C/T snv 7.0E-06 0.010 1.000 1 2002 2002
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.882 0.320 22 36305984 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016