chr19:41345604:C>A Detail (hg38) (TGFB1)

Information

Genome

Assembly Position
hg19 chr19:41,851,509-41,851,509 View the variant detail on this assembly version.
hg38 chr19:41,345,604-41,345,604

HGVS

Type Transcript Protein
RefSeq NM_000660.5:c.517-740G>T
Ensemble ENST00000221930.6:c.517-740G>T
ENST00000600196.2:c.517-740G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.451
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 190180 OMIM
HGNC 11766 HGNC
Ensembl ENSG00000105329 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62133563 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
0.002 Malignant tumor of colon Both TGFβ1 rs1800469 and rs4803455 were associated with colon cancer [odds ratio... BeFree 21068203 Detail
0.006 colon carcinoma Both TGFβ1 rs1800469 and rs4803455 were associated with colon cancer [odds ratio... BeFree 21068203 Detail
0.090 Malignant neoplasm of breast After adjustment for multiple comparisons, two SNPs were significantly associate... BeFree 24036662 Detail
0.005 Malignant neoplasm of breast After adjustment for multiple comparisons, two SNPs were significantly associate... BeFree 24036662 Detail
0.019 breast carcinoma After adjustment for multiple comparisons, two SNPs were significantly associate... BeFree 24036662 Detail
0.123 Migraine Disorders Genome-wide meta-analysis identifies new susceptibility loci for migraine. GWASCAT 23793025 Detail
0.004 breast carcinoma After adjustment for multiple comparisons, two SNPs were significantly associate... BeFree 24036662 Detail
0.002 breast carcinoma After adjustment for multiple comparisons, two SNPs were significantly associate... BeFree 24036662 Detail
0.002 Malignant neoplasm of breast After adjustment for multiple comparisons, two SNPs were significantly associate... BeFree 24036662 Detail
Annotation

Annotations

DescrptionSourceLinks
Both TGFβ1 rs1800469 and rs4803455 were associated with colon cancer [odds ratio (OR) = 0.65 and 1.4... DisGeNET Detail
Both TGFβ1 rs1800469 and rs4803455 were associated with colon cancer [odds ratio (OR) = 0.65 and 1.4... DisGeNET Detail
After adjustment for multiple comparisons, two SNPs were significantly associated with breast cancer... DisGeNET Detail
After adjustment for multiple comparisons, two SNPs were significantly associated with breast cancer... DisGeNET Detail
After adjustment for multiple comparisons, two SNPs were significantly associated with breast cancer... DisGeNET Detail
Genome-wide meta-analysis identifies new susceptibility loci for migraine. DisGeNET Detail
After adjustment for multiple comparisons, two SNPs were significantly associated with breast cancer... DisGeNET Detail
After adjustment for multiple comparisons, two SNPs were significantly associated with breast cancer... DisGeNET Detail
After adjustment for multiple comparisons, two SNPs were significantly associated with breast cancer... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4803455 dbSNP
Genome
hg38
Position
chr19:41,345,604-41,345,604
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))
rs4803455
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4514
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7565
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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