chr8:27456253:T>C Detail (hg19) (CLU)

Information

Genome

Assembly Position
hg19 chr8:27,456,253-27,456,253
hg38 chr8:27,598,736-27,598,736 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001831.3:c.1165-101A>G
NR_045494.1:c.1165-101A>G
NR_038335.1:c.1165-101A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.750
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 185430 OMIM
HGNC 2095 HGNC
Ensembl ENSG00000120885 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv32586390 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
0.287 Alzheimer's disease CLU rs2279590 polymorphism contributes to Alzheimer's disease susceptibility in ... BeFree 24947876 Detail
0.287 Alzheimer's disease Genome-wide association study identifies variants at CLU and CR1 associated with... GWASCAT 19734903 Detail
Annotation

Annotations

DescrptionSourceLinks
CLU rs2279590 polymorphism contributes to Alzheimer's disease susceptibility in Caucasian and Asian ... DisGeNET Detail
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2279590 dbSNP
Genome
hg19
Position
chr8:27,456,253-27,456,253
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))
rs2279590
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.75
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12570
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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