chr5:148826785:C>T Detail (hg38) (ADRB2, LOC129994952)

Information

Genome

Assembly Position
hg19 chr5:148,206,348-148,206,348 View the variant detail on this assembly version.
hg38 chr5:148,826,785-148,826,785

HGVS

Type Transcript Protein
RefSeq NM_000024.5:c.-47C>T
Ensemble ENST00000305988.6:c.-47C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.905
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.907

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 109690 OMIM
HGNC 286 HGNC
Ensembl ENSG00000169252 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv23202801 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-10 criteria provided, single submitter not provided germline Detail
drug response 2006-06-01 no assertion criteria provided Beta-2-adrenoreceptor agonist, reduced response to germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 Childhood asthma Four ADRB2 single nucleotide polymorphisms (rs1042711, rs1042713, rs1042714 and ... BeFree 23463918 Detail
0.013 Metabolic syndrome X ADRB2 haplotypes (comprising rs1042711, rs1801704, rs1042713 and rs1042714 in th... BeFree 22900502 Detail
0.203 Hypertensive disease Four ADRB2 gene polymorphisms C19R (T-47C), T-20C, G16R (G+46A), Q27E (C+79G) we... BeFree 11821707 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000024.6(ADRB2):c.-47C>T AND not provided ClinVar Detail
NM_000024.6(ADRB2):c.-47C>T AND Beta-2-adrenoreceptor agonist, reduced response to ClinVar Detail
Four ADRB2 single nucleotide polymorphisms (rs1042711, rs1042713, rs1042714 and rs1800888) were geno... DisGeNET Detail
ADRB2 haplotypes (comprising rs1042711, rs1801704, rs1042713 and rs1042714 in that order), genotypin... DisGeNET Detail
Four ADRB2 gene polymorphisms C19R (T-47C), T-20C, G16R (G+46A), Q27E (C+79G) were investigated in t... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1042711 dbSNP
Genome
hg38
Position
chr5:148,826,785-148,826,785
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1042711
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9052
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15171
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8274
East Asian Allele Counts (ExAC)
7505
East Asian Heterozygous Counts (ExAC)
719
East Asian Homozygous Counts (ExAC)
3393
East Asian Allele Frequency (ExAC)
0.9070582547739908
Chromosome Counts in All Race (ExAC)
113834
Allele Counts in All Race (ExAC)
77543
Heterozygous Counts in All Race (ExAC)
22929
Homozygous Counts in All Race (ExAC)
27307
Allele Frequency in All Race (ExAC)
0.6811936679726619
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