chr17:40706906:G>A Detail (hg19) (HSD17B1)

Information

Genome

Assembly Position
hg19 chr17:40,706,906-40,706,906
hg38 chr17:42,554,888-42,554,888 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001330219.2:c.940G>A NP_001317148.1:p.Gly314Ser
NM_000413.2:c.937G>A NP_000404.2:p.Gly313Ser
Ensemble ENST00000225929.5:c.940G>A ENST00000225929.5:p.Gly314Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.461
ToMMo:0.461
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.529

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 109684 OMIM
HGNC 5210 HGNC
Ensembl ENSG00000108786 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv57816713 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
0.132 endometriosis The comparison of genotype and allelic frequency of CYP2C19 polymorphism (rs1159... BeFree 25403437 Detail
0.248 endometriosis Patients with endometriosis (n = 150) and fertile controls (n = 199) were genoty... BeFree 20586553 Detail
0.240 endometriosis Patients with endometriosis (n = 150) and fertile controls (n = 199) were genoty... BeFree 20586553 Detail
0.042 Malignant neoplasm of breast In a case-control study of Chinese women, we examined genotypes of the CYP11A1 p... BeFree 18483327 Detail
<0.001 Breast Diseases In a case-control study of Chinese women, we examined genotypes of the CYP11A1 p... BeFree 18483327 Detail
<0.001 Breast Diseases In a case-control study of Chinese women, we examined genotypes of the CYP11A1 p... BeFree 18483327 Detail
<0.001 Breast Diseases In a case-control study of Chinese women, we examined genotypes of the CYP11A1 p... BeFree 18483327 Detail
0.042 Malignant neoplasm of breast The association between HSD17B1 Ser312Gly polymorphism and breast cancer risk: a... BeFree 20151320 Detail
0.004 breast carcinoma The association between HSD17B1 Ser312Gly polymorphism and breast cancer risk: a... BeFree 20151320 Detail
0.004 breast carcinoma In a case-control study of Chinese women, we examined genotypes of the CYP11A1 p... BeFree 18483327 Detail
0.240 endometriosis Here, we evaluated whether the risk and severity of endometriosis are associated... BeFree 15640252 Detail
<0.001 breast fibrocystic disease In a case-control study of Chinese women, we examined genotypes of the CYP11A1 p... BeFree 18483327 Detail
Annotation

Annotations

DescrptionSourceLinks
The comparison of genotype and allelic frequency of CYP2C19 polymorphism (rs11592737) in patients wi... DisGeNET Detail
Patients with endometriosis (n = 150) and fertile controls (n = 199) were genotyped for polymorphism... DisGeNET Detail
Patients with endometriosis (n = 150) and fertile controls (n = 199) were genotyped for polymorphism... DisGeNET Detail
In a case-control study of Chinese women, we examined genotypes of the CYP11A1 pentanucleotide [(TAA... DisGeNET Detail
In a case-control study of Chinese women, we examined genotypes of the CYP11A1 pentanucleotide [(TAA... DisGeNET Detail
In a case-control study of Chinese women, we examined genotypes of the CYP11A1 pentanucleotide [(TAA... DisGeNET Detail
In a case-control study of Chinese women, we examined genotypes of the CYP11A1 pentanucleotide [(TAA... DisGeNET Detail
The association between HSD17B1 Ser312Gly polymorphism and breast cancer risk: a meta-analysis inclu... DisGeNET Detail
The association between HSD17B1 Ser312Gly polymorphism and breast cancer risk: a meta-analysis inclu... DisGeNET Detail
In a case-control study of Chinese women, we examined genotypes of the CYP11A1 pentanucleotide [(TAA... DisGeNET Detail
Here, we evaluated whether the risk and severity of endometriosis are associated with polymorphisms ... DisGeNET Detail
In a case-control study of Chinese women, we examined genotypes of the CYP11A1 pentanucleotide [(TAA... 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
chr17:40,706,906-40,706,906
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1135
Mean of sample read depth (HGVD)
52.35
Standard deviation of sample read depth (HGVD)
23.02
Number of reference allele (HGVD)
1223
Number of alternative allele (HGVD)
1046
Allele Frequency (HGVD)
0.4609960334949317
Gene Symbol (HGVD)
HSD17B1
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))
rs605059
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4605
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7716
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16754
East Asian Chromosome Counts (ExAC)
2628
East Asian Allele Counts (ExAC)
1389
East Asian Heterozygous Counts (ExAC)
805
East Asian Homozygous Counts (ExAC)
292
East Asian Allele Frequency (ExAC)
0.5285388127853882
Chromosome Counts in All Race (ExAC)
38736
Allele Counts in All Race (ExAC)
24680
Heterozygous Counts in All Race (ExAC)
10241
Homozygous Counts in All Race (ExAC)
7217
Allele Frequency in All Race (ExAC)
0.6371334159438249
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