chr8:42614378:C>A Detail (hg19) (CHRNA6)

Information

Genome

Assembly Position
hg19 chr8:42,614,378-42,614,378
hg38 chr8:42,759,235-42,759,235 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004198.3:c.220-122G>T
NM_001199279.1:c.220-2198G>T
Ensemble ENST00000276410.7:c.220-122G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.168
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 606888 OMIM
HGNC 15963 HGNC
Ensembl ENSG00000147434 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv32936990 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
Annotation

Annotations

DescrptionSourceLinks
To examine the association of single nucleotide polymorphisms (SNPs) of the CHRNB3 (rs13280604) and ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs892413 dbSNP
Genome
hg19
Position
chr8:42,614,378-42,614,378
Variant Type
snv
Reference Allele
C
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))
rs892413
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1676
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2809
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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