chr6:31829810:C>G Detail (hg38) (HSPA1B)

Information

Genome

Assembly Position
hg19 chr6:31,797,587-31,797,587 View the variant detail on this assembly version.
hg38 chr6:31,829,810-31,829,810

HGVS

Type Transcript Protein
RefSeq NM_005346.4:c.1860C>G NP_005337.2:p.Gly620=
Ensemble ENST00000375650.5:c.1860C>G ENST00000375650.5:p.Gly620=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.770
ToMMo:0.771
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.628

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 603012 OMIM
HGNC 5233 HGNC
Ensembl ENSG00000204388 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24798510 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 High altitude pulmonary edema We focused on 5 common polymorphisms within HSPA1A (rs1043618 and rs1008438), HS... BeFree 19351530 Detail
Annotation

Annotations

DescrptionSourceLinks
We focused on 5 common polymorphisms within HSPA1A (rs1043618 and rs1008438), HSPA1B (rs1061581 and ... 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
hg38
Position
chr6:31,829,810-31,829,810
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
VQSRTrancheSNP99.00to99.90
# of samples (HGVD)
1035
Mean of sample read depth (HGVD)
30.64
Standard deviation of sample read depth (HGVD)
13.87
Number of reference allele (HGVD)
476
Number of alternative allele (HGVD)
1592
Allele Frequency (HGVD)
0.769825918762089
Gene Symbol (HGVD)
HSPA1B
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
VQSRTrancheSNP99.60to99.80
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs539689
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7711
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12922
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8496
East Asian Allele Counts (ExAC)
5333
East Asian Heterozygous Counts (ExAC)
1939
East Asian Homozygous Counts (ExAC)
1697
East Asian Allele Frequency (ExAC)
0.6277071563088512
Chromosome Counts in All Race (ExAC)
115314
Allele Counts in All Race (ExAC)
65949
Heterozygous Counts in All Race (ExAC)
27143
Homozygous Counts in All Race (ExAC)
19403
Allele Frequency in All Race (ExAC)
0.5719080077007128
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