chr17:40706906:G>C 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>C NP_001317148.1:p.Gly314Arg
NM_000413.2:c.937G>C NP_000404.2:p.Gly313Arg
Ensemble ENST00000225929.5:c.940G>C ENST00000225929.5:p.Gly314Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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 tgv57816714 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
C
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)
1
Allele Frequency (HGVD)
8.169934640522876E-4
Gene Symbol (HGVD)
HSD17B1
East Asian Chromosome Counts (ExAC)
2628
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
38736
Allele Counts in All Race (ExAC)
6
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.5489467162329616E-4
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