chr10:100536079:C>G Detail (hg38) (HIF1AN)

Information

Genome

Assembly Position
hg19 chr10:102,295,836-102,295,836 View the variant detail on this assembly version.
hg38 chr10:100,536,079-100,536,079

HGVS

Type Transcript Protein
RefSeq NM_017902.2:c.121C>G NP_060372.2:p.Pro41Ala
Ensemble ENST00000299163.7:c.121C>G ENST00000299163.7:p.Pro41Ala
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.219
ToMMo:0.234
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.262

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 606615 OMIM
HGNC 17113 HGNC
Ensembl ENSG00000166135 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40407520 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 gastroesophageal reflux disease In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
<0.001 Adenocarcinoma Of Esophagus In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
<0.001 Adenocarcinoma Of Esophagus In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
<0.001 Adenocarcinoma Of Esophagus In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
<0.001 gastroesophageal reflux disease In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
<0.001 gastroesophageal reflux disease In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
<0.001 Adenocarcinoma Of Esophagus In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
Annotation

Annotations

DescrptionSourceLinks
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... DisGeNET Detail
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... DisGeNET Detail
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... DisGeNET Detail
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... DisGeNET Detail
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... DisGeNET Detail
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... DisGeNET Detail
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... 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
chr10:100,536,079-100,536,079
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1134
Mean of sample read depth (HGVD)
59.87
Standard deviation of sample read depth (HGVD)
32.80
Number of reference allele (HGVD)
1771
Number of alternative allele (HGVD)
497
Allele Frequency (HGVD)
0.2191358024691358
Gene Symbol (HGVD)
HIF1AN
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))
rs2295778
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2342
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3926
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8444
East Asian Allele Counts (ExAC)
2212
East Asian Heterozygous Counts (ExAC)
1682
East Asian Homozygous Counts (ExAC)
265
East Asian Allele Frequency (ExAC)
0.26196115585030794
Chromosome Counts in All Race (ExAC)
113008
Allele Counts in All Race (ExAC)
28688
Heterozygous Counts in All Race (ExAC)
21324
Homozygous Counts in All Race (ExAC)
3682
Allele Frequency in All Race (ExAC)
0.25385813393742035
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