chr15:78814046:G>A Detail (hg19) (HYKK)

Information

Genome

Assembly Position
hg19 chr15:78,814,046-78,814,046
hg38 chr15:78,521,704-78,521,704 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001013619.3:c.478-5676G>A
Ensemble ENST00000388988.9:c.478-5676G>A
ENST00000566332.5:c.478-5676G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.919
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 614681 OMIM
HGNC 34403 HGNC
Ensembl ENSG00000188266 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53650488 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
0.179 Malignant neoplasm of lung Associations of SNPs in LOC123688 (rs10519203; odds ratio [OR] = 1.60, 95% confi... BeFree 20554942 Detail
0.010 Carcinoma of lung Associations of SNPs in LOC123688 (rs10519203; odds ratio [OR] = 1.60, 95% confi... BeFree 20554942 Detail
0.134 Malignant neoplasm of lung Associations of SNPs in LOC123688 (rs10519203; odds ratio [OR] = 1.60, 95% confi... BeFree 20554942 Detail
0.002 Carcinoma of lung Associations of SNPs in LOC123688 (rs10519203; odds ratio [OR] = 1.60, 95% confi... BeFree 20554942 Detail
Annotation

Annotations

DescrptionSourceLinks
Associations of SNPs in LOC123688 (rs10519203; odds ratio [OR] = 1.60, 95% confidence interval [CI] ... DisGeNET Detail
Associations of SNPs in LOC123688 (rs10519203; odds ratio [OR] = 1.60, 95% confidence interval [CI] ... DisGeNET Detail
Associations of SNPs in LOC123688 (rs10519203; odds ratio [OR] = 1.60, 95% confidence interval [CI] ... DisGeNET Detail
Associations of SNPs in LOC123688 (rs10519203; odds ratio [OR] = 1.60, 95% confidence interval [CI] ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10519203 dbSNP
Genome
hg19
Position
chr15:78,814,046-78,814,046
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))
rs10519203
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9189
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15401
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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