chr1:207784968:A>G Detail (hg19) (CR1)

Information

Genome

Assembly Position
hg19 chr1:207,784,968-207,784,968
hg38 chr1:207,611,623-207,611,623 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000651.4:c.6296-54A>G
NM_000573.3:c.4946-54A>G
Ensemble ENST00000367053.6:c.4946-54A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.606
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 120620 OMIM
HGNC 2334 HGNC
Ensembl ENSG00000203710 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4590309 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 Impaired cognition Our prevalent case study comparing prevalent AD cases (n = 428) with participant... BeFree 24176626 Detail
0.200 Impaired cognition Our prevalent case study comparing prevalent AD cases (n = 428) with participant... BeFree 24176626 Detail
0.262 Alzheimer's disease Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated wi... GWASCAT 21460840 Detail
0.262 Alzheimer's disease Genome-wide association study identifies variants at CLU and CR1 associated with... GWASCAT 19734903 Detail
0.262 Alzheimer's disease [Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated w... GAD 21460840 Detail
Annotation

Annotations

DescrptionSourceLinks
Our prevalent case study comparing prevalent AD cases (n = 428) with participants with no cognitive ... DisGeNET Detail
Our prevalent case study comparing prevalent AD cases (n = 428) with participants with no cognitive ... DisGeNET Detail
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disea... DisGeNET Detail
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease... DisGeNET Detail
[Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer\'s dis... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3818361 dbSNP
Genome
hg19
Position
chr1:207,784,968-207,784,968
Variant Type
snv
Reference Allele
A
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))
rs3818361
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6063
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10161
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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