chr3:52830119:T>C Detail (hg38) (ITIH4)

Information

Genome

Assembly Position
hg19 chr3:52,864,135-52,864,135 View the variant detail on this assembly version.
hg38 chr3:52,830,119-52,830,119

HGVS

Type Transcript Protein
RefSeq NM_002218.4:c.90+434A>G
NM_001166449.1:c.90+434A>G
Ensemble ENST00000266041.9:c.90+434A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.391
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 600564 OMIM
HGNC 6169 HGNC
Ensembl ENSG00000055955 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv12529963 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
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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4687554 dbSNP
Genome
hg38
Position
chr3:52,830,119-52,830,119
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs4687554
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.391
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6553
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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