chr1:35914532:T>C Detail (hg38) (AGO1)

Information

Genome

Assembly Position
hg19 chr1:36,380,133-36,380,133 View the variant detail on this assembly version.
hg38 chr1:35,914,532-35,914,532

HGVS

Type Transcript Protein
RefSeq NM_001317122.1:c.1833+258T>C
NM_012199.4:c.1833+258T>C
NM_001317123.1:c.1608+258T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.741
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 tgv1088015 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
rs595055 dbSNP
Genome
hg38
Position
chr1:35,914,532-35,914,532
Variant Type
snv
Reference Allele
T
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))
rs595055
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7413
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12424
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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