chr8:27464519:T>C Detail (hg19) (CLU)

Information

Genome

Assembly Position
hg19 chr8:27,464,519-27,464,519
hg38 chr8:27,607,002-27,607,002 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001831.3:c.247-478A>G
NR_045494.1:c.247-478A>G
NR_038335.1:c.247-478A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.720
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 tgv32586807 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 Mild cognitive disorder Plasma clusterin levels and the rs11136000 genotype in individuals with mild cog... BeFree 24117116 Detail
<0.001 Mild cognitive disorder CLU-rs11136000-G associated with worse baseline memory and incident MCI/LOAD. BeFree 25189118 Detail
0.001 Impaired cognition We examined the effect of the novel Alzheimer's disease (AD) risk variant rs1113... BeFree 22795969 Detail
0.287 Alzheimer's disease Genome-wide association study identifies variants at CLU and CR1 associated with... GWASCAT 19734903 Detail
0.003 schizophrenia Association analysis between the rs11136000 single nucleotide polymorphism in cl... BeFree 20738160 Detail
0.287 Alzheimer's disease In addition, the rs541458 and rs3851179 of PICALM SNPs are not related to develo... BeFree 26434199 Detail
0.287 Alzheimer's disease Genome-wide association study identifies variants at CLU and PICALM associated w... GWASCAT 19734902 Detail
0.262 Alzheimer's disease We investigated the influence of the rs6656401 single nucleotide polymorphisms (... BeFree 23650005 Detail
0.269 Alzheimer's disease In addition, the rs541458 and rs3851179 of PICALM SNPs are not related to develo... BeFree 26434199 Detail
0.003 schizophrenia [Association analysis between the rs11136000 single nucleotide polymorphism in c... GAD 20738160 Detail
0.287 Alzheimer's disease In this case-control study, we aimed to investigate whether single nucleotide po... BeFree 25359311 Detail
0.001 Alzheimer Disease, Late Onset CLU-rs11136000-G associated with worse baseline memory and incident MCI/LOAD. BeFree 25189118 Detail
Annotation

Annotations

DescrptionSourceLinks
Plasma clusterin levels and the rs11136000 genotype in individuals with mild cognitive impairment an... DisGeNET Detail
CLU-rs11136000-G associated with worse baseline memory and incident MCI/LOAD. DisGeNET Detail
We examined the effect of the novel Alzheimer's disease (AD) risk variant rs11136000 single nucleoti... DisGeNET Detail
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease... DisGeNET Detail
Association analysis between the rs11136000 single nucleotide polymorphism in clusterin gene, rs3851... DisGeNET Detail
In addition, the rs541458 and rs3851179 of PICALM SNPs are not related to development of BPSD, but t... DisGeNET Detail
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's dise... DisGeNET Detail
We investigated the influence of the rs6656401 single nucleotide polymorphisms (SNP) of the CR1 gene... DisGeNET Detail
In addition, the rs541458 and rs3851179 of PICALM SNPs are not related to development of BPSD, but t... DisGeNET Detail
[Association analysis between the rs11136000 single nucleotide polymorphism in clusterin gene, rs385... DisGeNET Detail
In this case-control study, we aimed to investigate whether single nucleotide polymorphisms in MTHFR... DisGeNET Detail
CLU-rs11136000-G associated with worse baseline memory and incident MCI/LOAD. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11136000 dbSNP
Genome
hg19
Position
chr8:27,464,519-27,464,519
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))
rs11136000
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7204
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12074
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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