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: rs201951824
rs201951824 		0.925 0.080 7 50476625 missense variant C/T snv 4.8E-05 2.8E-05
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		0.800 1.000 4 2004 2010
dbSNP: rs137853207
rs137853207 		1.000 7 50539926 missense variant C/T snv 4.0E-06 7.0E-06
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: rs137853208
rs137853208 		0.925 0.080 7 50504025 missense variant G/A 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: 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: rs137853210
rs137853210 		1.000 7 50529339 missense variant T/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: rs137853211
rs137853211 		1.000 7 50539958 missense variant G/A;T snv 3.6E-05
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: rs137853212
rs137853212 		1.000 7 50499201 missense variant C/G;T snv 1.2E-05
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: rs2167364
rs2167364 		1.000 0.120 7 50498129 intron variant T/C snv 0.30
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 2 2012 2013
dbSNP: rs1276093487
rs1276093487 		1.000 7 50470173 splice acceptor variant T/C snv
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		0.700 1.000 2 2004 2010
dbSNP: rs1037351
rs1037351 		1.000 0.120 7 50497706 intron variant T/C snv 0.30
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: rs10899734
rs10899734 		7 50479066 intron variant C/T snv 0.55
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs10899735
rs10899735 		7 50479193 intron variant C/T snv 0.55
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs10899736
rs10899736 		1.000 0.120 7 50479227 intron variant G/A;C snv
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: rs11238138
rs11238138 		7 50478294 intron variant C/T snv 0.56
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs11575387
rs11575387 		1.000 0.120 7 50499737 intron variant T/A;G snv
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: 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: 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: 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: rs13311361
rs13311361 		7 50481310 intron variant T/G snv 0.55
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1349492
rs1349492 		7 50478761 intron variant G/A snv 0.56
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1451372
rs1451372 		7 50486173 intron variant C/G snv 0.55
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
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: rs17152020
rs17152020 		1.000 0.120 7 50482161 intron variant T/A snv 0.22
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