chr8:141555862:A>C Detail (hg19) (AGO2)

Information

Genome

Assembly Position
hg19 chr8:141,555,862-141,555,862
hg38 chr8:140,545,763-140,545,763 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001164623.1:c.1749-1460T>G
NM_012154.3:c.1749-1460T>G
Ensemble ENST00000220592.10:c.1749-1460T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.058
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 606229 OMIM
HGNC 3263 HGNC
Ensembl ENSG00000123908 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv34983980 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 breast carcinoma In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were sig... BeFree 21766210 Detail
0.002 breast carcinoma In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were sig... BeFree 21766210 Detail
0.001 Malignant neoplasm of breast In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were sig... BeFree 21766210 Detail
0.002 Malignant neoplasm of breast In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were sig... BeFree 21766210 Detail
Annotation

Annotations

DescrptionSourceLinks
In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were significantly associate... DisGeNET Detail
In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were significantly associate... DisGeNET Detail
In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were significantly associate... DisGeNET Detail
In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were significantly associate... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3864659 dbSNP
Genome
hg19
Position
chr8:141,555,862-141,555,862
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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))
rs3864659
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0578
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
969
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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