chr8:27611345:C>G Detail (hg38) (CLU)

Information

Genome

Assembly Position
hg19 chr8:27,468,862-27,468,862 View the variant detail on this assembly version.
hg38 chr8:27,611,345-27,611,345

HGVS

Type Transcript Protein
RefSeq NM_001831.3:c.-29-745G>C
NR_045494.1:c.-29-745G>C
NR_038335.1:c.-229G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.403
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.489

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 tgv32587016 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
0.120 Alzheimer's disease Genome-wide association study identifies variants at CLU and CR1 associated with... GWASCAT 19734903 Detail
0.287 Alzheimer's disease Genome-wide association study identifies variants at CLU and CR1 associated with... GWASCAT 19734903 Detail
Annotation

Annotations

DescrptionSourceLinks
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease... DisGeNET Detail
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs9331888 dbSNP
Genome
hg38
Position
chr8:27,611,345-27,611,345
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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))
rs9331888
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4028
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6751
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
180
East Asian Allele Counts (ExAC)
88
East Asian Heterozygous Counts (ExAC)
46
East Asian Homozygous Counts (ExAC)
21
East Asian Allele Frequency (ExAC)
0.4888888888888889
Chromosome Counts in All Race (ExAC)
12046
Allele Counts in All Race (ExAC)
4301
Heterozygous Counts in All Race (ExAC)
2709
Homozygous Counts in All Race (ExAC)
796
Allele Frequency in All Race (ExAC)
0.35704798273285737
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