chr17:40706273:C>A Detail (hg19) (HSD17B1)

Information

Genome

Assembly Position
hg19 chr17:40,706,273-40,706,273
hg38 chr17:42,554,255-42,554,255 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000413.2:c.540-150C>A
NM_001330219.2:c.540-147C>A
Ensemble ENST00000585807.6:c.540-150C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.456
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

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 tgv57816575 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
0.101 Malignant neoplasm of breast However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.240 Malignant neoplasm of breast However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.028 Malignant neoplasm of breast However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.005 Mammographic Density However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.003 Mammographic Density However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.080 breast carcinoma However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.004 breast carcinoma However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.003 Mammographic Density However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.021 breast carcinoma However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.004 breast carcinoma However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.006 Mammographic Density However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.042 Malignant neoplasm of breast However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
Annotation

Annotations

DescrptionSourceLinks
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... 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
rs676387 dbSNP
Genome
hg19
Position
chr17:40,706,273-40,706,273
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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))
rs676387
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4555
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7632
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16756
Genome browser