AFF4, AF4/FMR2 family member 4, 27125

N. diseases: 62; N. variants: 12
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: rs786205680
rs786205680
1.000 0.160 5 132934293 missense variant G/A snv
CUI: C4085597
Disease: CHOPS SYNDROME
CHOPS SYNDROME
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 1 2015 2015
dbSNP: rs786205233
rs786205233
1.000 0.160 5 132934305 missense variant T/C snv
CUI: C4085597
Disease: CHOPS SYNDROME
CHOPS SYNDROME
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 0
dbSNP: rs786205679
rs786205679
1.000 0.160 5 132934304 missense variant G/C snv
CUI: C4085597
Disease: CHOPS SYNDROME
CHOPS SYNDROME
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 0