chr1:230713948:G>A Detail (hg38) (AGT)

Information

Genome

Assembly Position
hg19 chr1:230,849,694-230,849,694 View the variant detail on this assembly version.
hg38 chr1:230,713,948-230,713,948

HGVS

Type Transcript Protein
RefSeq NM_000029.3:c.-31+138C>T
Ensemble ENST00000366667.6:c.-31+138C>T
ENST00000679684.1:c.-31+138C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.325
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 106150 OMIM
HGNC 333 HGNC
Ensembl ENSG00000135744 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv5135277 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
0.005 Hepatitis C, Chronic The aim of this work was to establish an association between the single-nucleoti... BeFree 23941979 Detail
0.002 Fibrosis, Liver The aim of this work was to establish an association between the single-nucleoti... BeFree 23941979 Detail
0.005 Hepatitis C, Chronic The aim of this work was to establish an association between the single-nucleoti... BeFree 23941979 Detail
0.002 Fibrosis, Liver The aim of this work was to establish an association between the single-nucleoti... BeFree 23941979 Detail
0.036 Hepatitis C, Chronic The aim of this work was to establish an association between the single-nucleoti... BeFree 23941979 Detail
0.001 Virus Diseases The aim of this work was to establish an association between the single-nucleoti... BeFree 23941979 Detail
Annotation

Annotations

DescrptionSourceLinks
The aim of this work was to establish an association between the single-nucleotide polymorphisms (SN... DisGeNET Detail
The aim of this work was to establish an association between the single-nucleotide polymorphisms (SN... DisGeNET Detail
The aim of this work was to establish an association between the single-nucleotide polymorphisms (SN... DisGeNET Detail
The aim of this work was to establish an association between the single-nucleotide polymorphisms (SN... DisGeNET Detail
The aim of this work was to establish an association between the single-nucleotide polymorphisms (SN... DisGeNET Detail
The aim of this work was to establish an association between the single-nucleotide polymorphisms (SN... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3789679 dbSNP
Genome
hg38
Position
chr1:230,713,948-230,713,948
Variant Type
snv
Reference Allele
G
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))
rs3789679
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3248
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5443
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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