chr8:42704443:G>A Detail (hg38) (CHRNB3)

Information

Genome

Assembly Position
hg19 chr8:42,559,586-42,559,586 View the variant detail on this assembly version.
hg38 chr8:42,704,443-42,704,443

HGVS

Type Transcript Protein
RefSeq NM_000749.3:c.53-4274G>A
Ensemble ENST00000289957.3:c.53-4274G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.858
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 118508 OMIM
HGNC 1963 HGNC
Ensembl ENSG00000147432 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv32935217 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.131 attention deficit hyperactivity disorder To examine the association of single nucleotide polymorphisms (SNPs) of the CHRN... BeFree 23899432 Detail
<0.001 cannabis abuse Rs16969968 in CHRNA5 (and its proxy, rs1051730 in CHRNA3) and rs1451240, a proxy... BeFree 25770649 Detail
<0.001 cannabis abuse Rs16969968 in CHRNA5 (and its proxy, rs1051730 in CHRNA3) and rs1451240, a proxy... BeFree 25770649 Detail
<0.001 cannabis abuse Rs16969968 in CHRNA5 (and its proxy, rs1051730 in CHRNA3) and rs1451240, a proxy... BeFree 25770649 Detail
Annotation

Annotations

DescrptionSourceLinks
To examine the association of single nucleotide polymorphisms (SNPs) of the CHRNB3 (rs13280604) and ... DisGeNET Detail
Rs16969968 in CHRNA5 (and its proxy, rs1051730 in CHRNA3) and rs1451240, a proxy for rs13280604 in C... DisGeNET Detail
Rs16969968 in CHRNA5 (and its proxy, rs1051730 in CHRNA3) and rs1451240, a proxy for rs13280604 in C... DisGeNET Detail
Rs16969968 in CHRNA5 (and its proxy, rs1051730 in CHRNA3) and rs1451240, a proxy for rs13280604 in C... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs13280604 dbSNP
Genome
hg38
Position
chr8:42,704,443-42,704,443
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs13280604
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8575
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14372
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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