chr5:31401447:A>G Detail (hg19) (DROSHA)

Information

Genome

Assembly Position
hg19 chr5:31,401,447-31,401,447
hg38 chr5:31,401,340-31,401,340 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_013235.4:c.*92T>C
NM_001100412.1:c.*92T>C
Ensemble ENST00000344624.8:c.*92T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.223
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.329

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 608828 OMIM
HGNC 17904 HGNC
Ensembl ENSG00000113360 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv20679601 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 breast carcinoma Five miRNA binding site SNPs associated significantly with breast cancer risk: r... BeFree 25390939 Detail
<0.001 breast carcinoma Five miRNA binding site SNPs associated significantly with breast cancer risk: r... BeFree 25390939 Detail
<0.001 Malignant neoplasm of breast Five miRNA binding site SNPs associated significantly with breast cancer risk: r... BeFree 25390939 Detail
0.009 breast carcinoma Five miRNA binding site SNPs associated significantly with breast cancer risk: r... BeFree 25390939 Detail
<0.001 breast carcinoma Five miRNA binding site SNPs associated significantly with breast cancer risk: r... BeFree 25390939 Detail
<0.001 Malignant neoplasm of breast Five miRNA binding site SNPs associated significantly with breast cancer risk: r... BeFree 25390939 Detail
<0.001 breast carcinoma Five miRNA binding site SNPs associated significantly with breast cancer risk: r... BeFree 25390939 Detail
0.049 Malignant neoplasm of breast Five miRNA binding site SNPs associated significantly with breast cancer risk: r... BeFree 25390939 Detail
0.005 Malignant neoplasm of breast Five miRNA binding site SNPs associated significantly with breast cancer risk: r... BeFree 25390939 Detail
<0.001 Malignant neoplasm of breast Five miRNA binding site SNPs associated significantly with breast cancer risk: r... BeFree 25390939 Detail
<0.001 malignant peripheral nerve sheath tumor Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA r... BeFree 23763827 Detail
<0.001 Turner syndrome A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Turner syndrome A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Ovarian Failure, Premature A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Turner syndrome A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 malignant peripheral nerve sheath tumor Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA r... BeFree 23763827 Detail
0.003 Ovarian Failure, Premature A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Turner syndrome A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Ovarian Failure, Premature A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 malignant peripheral nerve sheath tumor Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA r... BeFree 23763827 Detail
<0.001 malignant peripheral nerve sheath tumor Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA r... BeFree 23763827 Detail
<0.001 Ovarian Failure, Premature A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
Annotation

Annotations

DescrptionSourceLinks
Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... DisGeNET Detail
Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... DisGeNET Detail
Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... DisGeNET Detail
Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... DisGeNET Detail
Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... DisGeNET Detail
Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... DisGeNET Detail
Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... DisGeNET Detail
Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... DisGeNET Detail
Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... DisGeNET Detail
Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio... DisGeNET Detail
Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95%... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95%... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95%... DisGeNET Detail
Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95%... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... 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
rs10719 dbSNP
Genome
hg19
Position
chr5:31,401,447-31,401,447
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs10719
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2228
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3734
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8504
East Asian Allele Counts (ExAC)
2802
East Asian Heterozygous Counts (ExAC)
1866
East Asian Homozygous Counts (ExAC)
468
East Asian Allele Frequency (ExAC)
0.3294920037629351
Chromosome Counts in All Race (ExAC)
120288
Allele Counts in All Race (ExAC)
82821
Heterozygous Counts in All Race (ExAC)
22875
Homozygous Counts in All Race (ExAC)
29973
Allele Frequency in All Race (ExAC)
0.6885225458898643
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