POLR3B, RNA polymerase III subunit B, 55703

N. diseases: 71; N. variants: 19
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138249161
rs138249161
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.710 GeneticVariation BEFREE We report on the clinical, neuroradiological and endocrinological follow-up of a male affected by 4H syndrome with confirmed POLR3B mutations (c.1568 T > A/p.V523E variant in exon 15 and the novel c.1988C > T/p.T663I mutation in exon 19). 26204956 2015
dbSNP: rs3851634
rs3851634
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C1621958
Disease:
Glioblastoma Multiforme 		T 0.710 GeneticVariation GWASCAT After genotyping an additional 1,490 cases and 1,723 controls we identify new risk loci for glioblastoma (GBM) at 12q23.33 (rs3851634, near POLR3B, P=3.02 × 10(-9)) and non-GBM at 10q25.2 (rs11196067, near VTI1A, P=4.32 × 10(-8)), 11q23.2 (rs648044, near ZBTB16, P=6.26 × 10(-11)), 12q21.2 (rs12230172, P=7.53 × 10(-11)) and 15q24.2 (rs1801591, near ETFA, P=5.71 × 10(-9)). 26424050 2015
dbSNP: rs3851634
rs3851634
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C0017636
Disease:
Glioblastoma 		T 0.710 GeneticVariation GWASCAT After genotyping an additional 1,490 cases and 1,723 controls we identify new risk loci for glioblastoma (GBM) at 12q23.33 (rs3851634, near POLR3B, P=3.02 × 10(-9)) and non-GBM at 10q25.2 (rs11196067, near VTI1A, P=4.32 × 10(-8)), 11q23.2 (rs648044, near ZBTB16, P=6.26 × 10(-11)), 12q21.2 (rs12230172, P=7.53 × 10(-11)) and 15q24.2 (rs1801591, near ETFA, P=5.71 × 10(-9)). 26424050 2015
dbSNP: rs3851634
rs3851634
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C0017636
Disease:
Glioblastoma 		0.710 GeneticVariation BEFREE After genotyping an additional 1,490 cases and 1,723 controls we identify new risk loci for glioblastoma (GBM) at 12q23.33 (rs3851634, near POLR3B, P=3.02 × 10(-9)) and non-GBM at 10q25.2 (rs11196067, near VTI1A, P=4.32 × 10(-8)), 11q23.2 (rs648044, near ZBTB16, P=6.26 × 10(-11)), 12q21.2 (rs12230172, P=7.53 × 10(-11)) and 15q24.2 (rs1801591, near ETFA, P=5.71 × 10(-9)). 26424050 2015
dbSNP: rs3851634
rs3851634
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C1621958
Disease:
Glioblastoma Multiforme 		0.710 GeneticVariation BEFREE After genotyping an additional 1,490 cases and 1,723 controls we identify new risk loci for glioblastoma (GBM) at 12q23.33 (rs3851634, near POLR3B, P=3.02 × 10(-9)) and non-GBM at 10q25.2 (rs11196067, near VTI1A, P=4.32 × 10(-8)), 11q23.2 (rs648044, near ZBTB16, P=6.26 × 10(-11)), 12q21.2 (rs12230172, P=7.53 × 10(-11)) and 15q24.2 (rs1801591, near ETFA, P=5.71 × 10(-9)). 26424050 2015
dbSNP: rs138249161
rs138249161
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		A 0.710 CausalMutation CLINVAR
dbSNP: rs11113011
rs11113011
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs3851634
rs3851634
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C0017638
Disease:
Glioma 		T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies multiple susceptibility loci for glioma. 26424050 2015
dbSNP: rs3851634
rs3851634
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C0085136
Disease:
Central Nervous System Neoplasms 		T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies multiple susceptibility loci for glioma. 26424050 2015
dbSNP: rs11112992
rs11112992
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C0010068
Disease:
Coronary heart disease 		0.700 GeneticVariation GWASDB A genome-wide association study of a coronary artery disease risk variant. 23364394 2013
dbSNP: rs1442212683
rs1442212683
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C3280644
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		0.700 GeneticVariation UNIPROT Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. 23355746 2013
dbSNP: rs1442212683
rs1442212683
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C3280644
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		0.700 GeneticVariation UNIPROT Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. 22036171 2011
dbSNP: rs1442212683
rs1442212683
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C3280644
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		0.700 GeneticVariation UNIPROT Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. 22036172 2011
dbSNP: rs138249161
rs138249161
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C0349588
Disease:
Short stature 		A 0.700 CausalMutation CLINVAR
dbSNP: rs138249161
rs138249161
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C4082304
Disease:
Oligodontia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs138249161
rs138249161
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C1859301
Disease:
Cerebellar hypoplasia with endosteal sclerosis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs138249161
rs138249161
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C0266470
Disease:
Cerebellar Hypoplasia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs138249161
rs138249161
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C3280644
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		A 0.700 CausalMutation CLINVAR
dbSNP: rs138249161
rs138249161
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C0342384
Disease:
Idiopathic hypogonadotropic hypogonadism 		A 0.700 CausalMutation CLINVAR
dbSNP: rs138249161
rs138249161
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C0004134
Disease:
Ataxia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs267608683
rs267608683
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C3280644
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		A 0.700 CausalMutation CLINVAR
dbSNP: rs267608684
rs267608684
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C3280644
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		A 0.700 CausalMutation CLINVAR
dbSNP: rs267608685
rs267608685
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C3280644
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		T 0.700 CausalMutation CLINVAR
dbSNP: rs267608686
rs267608686
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C3280644
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		C 0.700 CausalMutation CLINVAR
dbSNP: rs267608687
rs267608687
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C3280644
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		A 0.700 CausalMutation CLINVAR