MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80338831
rs80338831
0.882 0.320 22 36292060 missense variant C/A;G;T snv
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2003 2003
dbSNP: rs80338826
rs80338826
0.827 0.320 22 36305985 missense variant G/A snv
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2002 2002