chr15:78602417:C>G Detail (hg38) (CHRNA3)

Information

Genome

Assembly Position
hg19 chr15:78,894,759-78,894,759 View the variant detail on this assembly version.
hg38 chr15:78,602,417-78,602,417

HGVS

Type Transcript Protein
RefSeq NM_000743.4:c.378-153G>C
NM_001166694.1:c.378-153G>C
Ensemble ENST00000326828.6:c.378-153G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.153
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 118503 OMIM
HGNC 1957 HGNC
Ensembl ENSG00000080644 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53653248 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
<0.001 attention deficit hyperactivity disorder Our results demonstrate that the minor alleles of two polymorphisms (rs578776 an... BeFree 24375168 Detail
Annotation

Annotations

DescrptionSourceLinks
Our results demonstrate that the minor alleles of two polymorphisms (rs578776 and rs3743078) in the ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3743078 dbSNP
Genome
hg38
Position
chr15:78,602,417-78,602,417
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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))
rs3743078
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1532
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2567
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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