chr3:3150267:A>G Detail (hg19) (IL5RA)

Information

Genome

Assembly Position
hg19 chr3:3,150,267-3,150,267
hg38 chr3:3,108,583-3,108,583 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000564.4:c.-106T>C
NM_175725.2:c.-106T>C
NM_175728.2:c.-37T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.213
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 147851 OMIM
HGNC 6017 HGNC
Ensembl ENSG00000091181 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv11251532 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 Non-small cell lung carcinoma Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in dif... BeFree 21412764 Detail
<0.001 Non-small cell lung carcinoma Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in dif... BeFree 21412764 Detail
<0.001 Non-small cell lung carcinoma Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in dif... BeFree 21412764 Detail
Annotation

Annotations

DescrptionSourceLinks
Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in different genetic model... DisGeNET Detail
Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in different genetic model... DisGeNET Detail
Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in different genetic model... 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
rs11713419 dbSNP
Genome
hg19
Position
chr3:3,150,267-3,150,267
Variant Type
snv
Reference Allele
A
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))
rs11713419
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2128
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3567
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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