chr1:35897874:G>A Detail (hg38) (AGO1)

Information

Genome

Assembly Position
hg19 chr1:36,363,475-36,363,475 View the variant detail on this assembly version.
hg38 chr1:35,897,874-35,897,874

HGVS

Type Transcript Protein
RefSeq NM_001317122.1:c.1020+2605G>A
NM_012199.4:c.1020+2605G>A
NM_001317123.1:c.795+2605G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.680
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 606228 OMIM
HGNC 3262 HGNC
Ensembl ENSG00000092847 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv1087518 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 Hepatitis B, Chronic To explore the relationship between three SNPs (rs3757 in DGCR8, rs636832 in AGO... BeFree 25239527 Detail
<0.001 hepatitis B Our study first provided the evidence that rs636832 in AGO1 was associated with ... BeFree 25239527 Detail
Annotation

Annotations

DescrptionSourceLinks
To explore the relationship between three SNPs (rs3757 in DGCR8, rs636832 in AGO1, rs7813 in GEMIN4)... DisGeNET Detail
Our study first provided the evidence that rs636832 in AGO1 was associated with chronic HBV infectio... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs636832 dbSNP
Genome
hg38
Position
chr1:35,897,874-35,897,874
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))
rs636832
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6802
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11400
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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