chr3:148725481:C>T Detail (hg38) (AGTR1)

Information

Genome

Assembly Position
hg19 chr3:148,443,268-148,443,268 View the variant detail on this assembly version.
hg38 chr3:148,725,481-148,725,481

HGVS

Type Transcript Protein
RefSeq NM_000685.4:c.-47-15508C>T
NM_031850.3:c.-47-15508C>T
NM_004835.4:c.-105-4699C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.138
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 106165 OMIM
HGNC 336 HGNC
Ensembl ENSG00000144891 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv14613672 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 aortic aneurysm In this study of the Chinese population, homozygosity of TGFB1 rs1800469-T and A... BeFree 26027897 Detail
0.001 aortic aneurysm In this study of the Chinese population, homozygosity of TGFB1 rs1800469-T and A... BeFree 26027897 Detail
Annotation

Annotations

DescrptionSourceLinks
In this study of the Chinese population, homozygosity of TGFB1 rs1800469-T and AGTR1 rs12695895-T mi... DisGeNET Detail
In this study of the Chinese population, homozygosity of TGFB1 rs1800469-T and AGTR1 rs12695895-T mi... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12695895 dbSNP
Genome
hg38
Position
chr3:148,725,481-148,725,481
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs12695895
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1378
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2310
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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