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
dbSNP: rs10038027
rs10038027 		1.000 0.040 5 132895053 intron variant A/T snv 0.32
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs10479013
rs10479013 		1.000 0.040 5 132909094 intron variant G/A snv 0.21
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12163971
rs12163971 		5 132890977 intron variant C/A snv 0.11
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs12653694
rs12653694 		1.000 0.040 5 132936664 intron variant G/A snv 3.0E-03
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17691584
rs17691584 		1.000 0.040 5 132948559 non coding transcript exon variant A/C snv 0.13
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2525485
rs2525485 		1.000 0.040 5 132883095 intron variant C/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3798128
rs3798128 		1.000 0.040 5 132895339 intron variant A/T snv 0.50
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs57880964
rs57880964 		5 132874982 3 prime UTR variant G/C snv 0.13
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs739863
rs739863 		1.000 0.040 5 132896623 synonymous variant G/A;C snv 0.14; 1.7E-04
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017