chr1:230849834:T>C Detail (hg19) (AGT)

Information

Genome

Assembly Position
hg19 chr1:230,849,834-230,849,834
hg38 chr1:230,714,088-230,714,088 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000029.3:c.-33A>G
Ensemble ENST00000680783.1:c.-33A>G
ENST00000681269.1:c.-30-3235A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 106150 OMIM
HGNC 333 HGNC
Ensembl ENSG00000135744 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant 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
0.440 obesity All the individuals were genotyped for the following subset of polymorphisms in ... BeFree 18704460 Detail
0.289 obesity All the individuals were genotyped for the following subset of polymorphisms in ... BeFree 18704460 Detail
0.024 obesity All the individuals were genotyped for the following subset of polymorphisms in ... BeFree 18704460 Detail
0.641 obesity All the individuals were genotyped for the following subset of polymorphisms in ... BeFree 18704460 Detail
<0.001 Cirrhosis In this respect, we investigated the impact of functional genetic polymorphisms ... BeFree 15941661 Detail
0.218 liver cirrhosis In this respect, we investigated the impact of functional genetic polymorphisms ... BeFree 15941661 Detail
<0.001 Hereditary hemochromatosis In this respect, we investigated the impact of functional genetic polymorphisms ... BeFree 15941661 Detail
Annotation

Annotations

DescrptionSourceLinks
All the individuals were genotyped for the following subset of polymorphisms in obesity-related gene... DisGeNET Detail
All the individuals were genotyped for the following subset of polymorphisms in obesity-related gene... DisGeNET Detail
All the individuals were genotyped for the following subset of polymorphisms in obesity-related gene... DisGeNET Detail
All the individuals were genotyped for the following subset of polymorphisms in obesity-related gene... DisGeNET Detail
In this respect, we investigated the impact of functional genetic polymorphisms of TGF-beta1 (codon ... DisGeNET Detail
In this respect, we investigated the impact of functional genetic polymorphisms of TGF-beta1 (codon ... DisGeNET Detail
In this respect, we investigated the impact of functional genetic polymorphisms of TGF-beta1 (codon ... 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
rs11557880 dbSNP
Genome
hg19
Position
chr1:230,849,834-230,849,834
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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