chr11:67352256:C>A Detail (hg19) (GSTP1)

Information

Genome

Assembly Position
hg19 chr11:67,352,256-67,352,256
hg38 chr11:67,584,785-67,584,785 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.149
ToMMo:0.140
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.159

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-06-19 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Carcinoma of lung When Phase 2 software was used to reconstruct the haplotype for GSTP1, the haplo... BeFree 24786234 Detail
<0.001 Malignant neoplasm of lung When Phase 2 software was used to reconstruct the haplotype for GSTP1, the haplo... BeFree 24786234 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000852.4(GSTP1):c.232+13C>A AND not provided ClinVar Detail
When Phase 2 software was used to reconstruct the haplotype for GSTP1, the haplotype CACA (rs749174+... DisGeNET Detail
When Phase 2 software was used to reconstruct the haplotype for GSTP1, the haplotype CACA (rs749174+... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs762803 dbSNP
Genome
hg19
Position
chr11:67,352,256-67,352,256
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
837
Mean of sample read depth (HGVD)
60.34
Standard deviation of sample read depth (HGVD)
30.84
Number of reference allele (HGVD)
1424
Number of alternative allele (HGVD)
250
Allele Frequency (HGVD)
0.14934289127837516
Gene Symbol (HGVD)
GSTP1
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))
rs762803
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1404
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2352
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8524
East Asian Allele Counts (ExAC)
1357
East Asian Heterozygous Counts (ExAC)
1131
East Asian Homozygous Counts (ExAC)
113
East Asian Allele Frequency (ExAC)
0.15919755983106523
Chromosome Counts in All Race (ExAC)
119070
Allele Counts in All Race (ExAC)
41823
Heterozygous Counts in All Race (ExAC)
26075
Homozygous Counts in All Race (ExAC)
7874
Allele Frequency in All Race (ExAC)
0.3512471655328798
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