POLR3A, RNA polymerase III subunit A, 11128

N. diseases: 219; N. variants: 47
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608670
rs267608670
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0023520
Disease:
Leukodystrophy 		0.010 GeneticVariation BEFREE Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation. 28407788 2017
dbSNP: rs2559658
rs2559658
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1168641193
rs1168641193
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome 		A 0.700 CausalMutation CLINVAR Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 30414627 2018
dbSNP: rs1248039821
rs1248039821
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome 		A 0.700 GeneticVariation CLINVAR Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 30414627 2018
dbSNP: rs141484643
rs141484643
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome 		T 0.700 CausalMutation CLINVAR Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 30414627 2018
dbSNP: rs141659018
rs141659018
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome 		A 0.700 CausalMutation CLINVAR Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 30414627 2018
dbSNP: rs1462460124
rs1462460124
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome 		C 0.700 CausalMutation CLINVAR Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 30414627 2018
dbSNP: rs1564613755
rs1564613755
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome 		G 0.700 CausalMutation CLINVAR Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 30414627 2018
dbSNP: rs1564623882
rs1564623882
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome 		T 0.700 CausalMutation CLINVAR Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 30414627 2018
dbSNP: rs181087667
rs181087667
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome 		T 0.700 CausalMutation CLINVAR Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 30414627 2018
dbSNP: rs368905417
rs368905417
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome 		T 0.700 CausalMutation CLINVAR Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 30414627 2018
dbSNP: rs774007232
rs774007232
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0406586
Disease:
Wiedemann-Rautenstrauch syndrome 		A 0.700 CausalMutation CLINVAR Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. 30414627 2018
dbSNP: rs16935509
rs16935509
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs16935512
rs16935512
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs16935524
rs16935524
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2241551
rs2241551
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2288374
rs2288374
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2559825
rs2559825
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2559825
rs2559825
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs3815891
rs3815891
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs1217230904
rs1217230904
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.700 GeneticVariation UNIPROT Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination. 23694757 2014
dbSNP: rs371703979
rs371703979
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.700 GeneticVariation UNIPROT Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination. 23694757 2014
dbSNP: rs762708292
rs762708292
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.700 GeneticVariation UNIPROT Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination. 23694757 2014
dbSNP: rs1217230904
rs1217230904
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and 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: rs371703979
rs371703979
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C2676243
Disease:
Leukodystrophy, Hypomyelinating, with Hypodontia and 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