chr17:32612894:G>A Detail (hg19) (CCL11)

Information

Genome

Assembly Position
hg19 chr17:32,612,894-32,612,894
hg38 chr17:34,285,875-34,285,875 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002986.2:c.67G>A NP_002977.1:p.Ala23Thr
Ensemble ENST00000305869.4:c.67G>A ENST00000305869.4:p.Ala23Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.120
ToMMo:0.116
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.175

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 601156 OMIM
HGNC 10610 HGNC
Ensembl ENSG00000172156 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv57566955 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-10-25 criteria provided, single submitter CCL11-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 diabetes mellitus In Cox regression model, after adjustment for baseline confounding variables inc... BeFree 20536507 Detail
0.002 diabetes mellitus In Cox regression model, after adjustment for baseline confounding variables inc... BeFree 20536507 Detail
<0.001 Diabetes In Cox regression model, after adjustment for baseline confounding variables inc... BeFree 20536507 Detail
0.002 Diabetes In Cox regression model, after adjustment for baseline confounding variables inc... BeFree 20536507 Detail
0.001 Diabetes In Cox regression model, after adjustment for baseline confounding variables inc... BeFree 20536507 Detail
0.002 diabetes mellitus In Cox regression model, after adjustment for baseline confounding variables inc... BeFree 20536507 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002986.3(CCL11):c.67G>A (p.Ala23Thr) AND CCL11-related disorder ClinVar Detail
In Cox regression model, after adjustment for baseline confounding variables including age, sex, smo... DisGeNET Detail
In Cox regression model, after adjustment for baseline confounding variables including age, sex, smo... DisGeNET Detail
In Cox regression model, after adjustment for baseline confounding variables including age, sex, smo... DisGeNET Detail
In Cox regression model, after adjustment for baseline confounding variables including age, sex, smo... DisGeNET Detail
In Cox regression model, after adjustment for baseline confounding variables including age, sex, smo... DisGeNET Detail
In Cox regression model, after adjustment for baseline confounding variables including age, sex, smo... 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
-
Genome
hg19
Position
chr17:32,612,894-32,612,894
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1208
Mean of sample read depth (HGVD)
101.95
Standard deviation of sample read depth (HGVD)
51.51
Number of reference allele (HGVD)
2125
Number of alternative allele (HGVD)
291
Allele Frequency (HGVD)
0.12044701986754967
Gene Symbol (HGVD)
CCL11
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))
rs1129844
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1162
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1947
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8512
East Asian Allele Counts (ExAC)
1487
East Asian Heterozygous Counts (ExAC)
1219
East Asian Homozygous Counts (ExAC)
134
East Asian Allele Frequency (ExAC)
0.17469454887218044
Chromosome Counts in All Race (ExAC)
120036
Allele Counts in All Race (ExAC)
19762
Heterozygous Counts in All Race (ExAC)
16291
Homozygous Counts in All Race (ExAC)
1735
Allele Frequency in All Race (ExAC)
0.1646339431503882
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