rs80338831, 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 36292060 missense variant C/A;G;T snv 0.830 1.000 12 2000 2011
SEBASTIAN SYNDROME
CUI: C1854520
Disease: SEBASTIAN SYNDROME
13 0.882 0.320 22 36292060 missense variant C/A;G;T snv 0.720 1.000 2 2002 2003
Fechtner syndrome (disorder)
CUI: C0403445
Disease: Fechtner syndrome (disorder)
2 0.882 0.320 22 36292060 missense variant C/A;G;T snv 0.020 1.000 2 2003 2003
Macrothrombocytopenia
CUI: C2751260
Disease: Macrothrombocytopenia
31 0.882 0.320 22 36292060 missense variant C/A;G;T snv 0.010 1.000 1 2003 2003