rs867593888, MYH9

N. diseases: 11
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.
SEBASTIAN SYNDROME
CUI: C1854520
Disease: SEBASTIAN SYNDROME
13 0.882 0.200 22 36292059 missense variant T/C snv 0.700 1.000 1 2019 2019
Abnormal platelet function
CUI: C0855740
Disease: Abnormal platelet function
2 0.882 0.200 22 36292059 missense variant T/C snv 0.700 0
Abnormal platelet morphology
CUI: C0855742
Disease: Abnormal platelet morphology
1 0.882 0.200 22 36292059 missense variant T/C snv 0.700 0
Abnormal platelet shape
CUI: C4022866
Disease: Abnormal platelet shape
1 0.882 0.200 22 36292059 missense variant T/C snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.882 0.200 22 36292059 missense variant T/C snv 0.700 0
Epistaxis
CUI: C0014591
Disease: Epistaxis
4 0.882 0.200 22 36292059 missense variant T/C snv 0.700 0
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.882 0.200 22 36292059 missense variant T/C snv 0.700 0
Increased mean platelet volume
CUI: C1096367
Disease: Increased mean platelet volume
2 0.882 0.200 22 36292059 missense variant T/C snv 0.700 0
Numerous pigmented freckles
CUI: C1968565
Disease: Numerous pigmented freckles
1 0.882 0.200 22 36292059 missense variant T/C snv 0.700 0
Obesity
CUI: C0028754
Disease: Obesity
1111 0.882 0.200 22 36292059 missense variant T/C snv 0.700 0
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.882 0.200 22 36292059 missense variant T/C snv 0.700 0