chr6:31783507:G>C Detail (hg19) (HSPA1A, LOC107063610)

Information

Genome

Assembly Position
hg19 chr6:31,783,507-31,783,507
hg38 chr6:31,815,730-31,815,730 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005345.5:c.-27G>C
Ensemble ENST00000375651.7:c.-27G>C
ENST00000608703.1:c.-27G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.177
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.308

Prediction

ClinVar

Clinical Significance association
Review star
Show details
Links
Type Database ID Link
Gene MIM 140550 OMIM
HGNC 5232 HGNC
Ensembl ENSG00000204389 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24797885 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
association 2019-08-04 no assertion criteria provided chronic obstructive pulmonary disease germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Leukemia, Lymphocytic, Acute, L1 To systematically evaluate their associations with childhood acute lymphoblastic... BeFree 20012387 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 To systematically evaluate their associations with childhood acute lymphoblastic... BeFree 20012387 Detail
<0.001 High altitude pulmonary edema Haplotypes Hap4 (G-C-A, in order of rs1061581, rs1043618 and rs1008438) and Hap5... BeFree 19351530 Detail
<0.001 High altitude pulmonary edema We focused on 5 common polymorphisms within HSPA1A (rs1043618 and rs1008438), HS... BeFree 19351530 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005345.6(HSPA1A):c.-27G>C AND Chronic obstructive pulmonary disease ClinVar Detail
To systematically evaluate their associations with childhood acute lymphoblastic leukemia (ALL), we ... DisGeNET Detail
To systematically evaluate their associations with childhood acute lymphoblastic leukemia (ALL), we ... DisGeNET Detail
Haplotypes Hap4 (G-C-A, in order of rs1061581, rs1043618 and rs1008438) and Hap5 (G-G-A) had an 86% ... DisGeNET Detail
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
-
dbSNP
rs1043618 dbSNP
Genome
hg19
Position
chr6:31,783,507-31,783,507
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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))
rs1043618
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1767
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2961
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8624
East Asian Allele Counts (ExAC)
2655
East Asian Heterozygous Counts (ExAC)
1761
East Asian Homozygous Counts (ExAC)
447
East Asian Allele Frequency (ExAC)
0.30786178107606677
Chromosome Counts in All Race (ExAC)
120994
Allele Counts in All Race (ExAC)
48352
Heterozygous Counts in All Race (ExAC)
27110
Homozygous Counts in All Race (ExAC)
10619
Allele Frequency in All Race (ExAC)
0.39962312180769294
Genome browser