FIGNL1, fidgetin like 1, 63979

N. diseases: 23; N. variants: 60
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: rs11575457
rs11575457 		7 50479886 non coding transcript exon variant A/C;T snv 0.56; 1.6E-05
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs137853209
rs137853209 		1.000 7 50495369 missense variant A/G snv
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		0.800 1.000 2 2004 2004
dbSNP: rs11980368
rs11980368 		7 50482241 intron variant A/G snv 0.49
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs12718528
rs12718528 		7 50477873 intron variant A/G snv 0.55
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs12718529
rs12718529 		7 50477895 intron variant A/G snv 0.55
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs12718541
rs12718541 		0.925 0.080 7 50482446 intron variant A/G snv 0.55
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs12718541
rs12718541 		0.925 0.080 7 50482446 intron variant A/G snv 0.55
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs17133853
rs17133853 		1.000 0.120 7 50501717 intron variant A/G snv 0.12
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2060762
rs2060762 		1.000 0.080 7 50461686 intron variant A/G snv 0.81
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs7809758
rs7809758 		0.882 0.120 7 50505635 intron variant A/G snv 0.36
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs7809758
rs7809758 		0.882 0.120 7 50505635 intron variant A/G snv 0.36
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs7809758
rs7809758 		0.882 0.120 7 50505635 intron variant A/G snv 0.36
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2017 2017
dbSNP: rs880028
rs880028 		0.882 0.120 7 50502438 intron variant A/G snv 0.21
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs880028
rs880028 		0.882 0.120 7 50502438 intron variant A/G snv 0.21
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2017 2017
dbSNP: rs880028
rs880028 		0.882 0.120 7 50502438 intron variant A/G snv 0.21
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4947584
rs4947584 		1.000 0.120 7 50505011 intron variant A/T snv 0.35
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4947584
rs4947584 		1.000 0.120 7 50505011 intron variant A/T snv 0.35
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs11575575
rs11575575 		1.000 0.120 7 50456510 intron variant C/A snv 7.5E-02
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4992502
rs4992502 		7 50477493 intron variant C/A snv 0.56
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1554411234
rs1554411234 		1.000 7 50463322 missense variant C/A snv
CUI: C1837639
Disease: Intermittent hypothermia
Intermittent hypothermia 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1554411234
rs1554411234 		1.000 7 50463322 missense variant C/A snv
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1554411234
rs1554411234 		1.000 7 50463322 missense variant C/A snv
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1554411234
rs1554411234 		1.000 7 50463322 missense variant C/A snv
CUI: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		0.700 0
dbSNP: rs1554411234
rs1554411234 		1.000 7 50463322 missense variant C/A snv
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		0.700 0
dbSNP: rs1181496880
rs1181496880 		0.925 0.080 7 50539915 missense variant C/A;G snv 4.0E-06
CUI: C0342686
Disease: Aromatic amino acid decarboxylase deficiency
Aromatic amino acid decarboxylase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016