chr3:46370444:A>G Detail (hg38) (CCR5, CCR5AS)

Information

Genome

Assembly Position
hg19 chr3:46,411,935-46,411,935 View the variant detail on this assembly version.
hg38 chr3:46,370,444-46,370,444

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.461
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2003-03-01 no assertion criteria provided Acquired immunodeficiency syndrome, delayed progression to germline Detail
Benign 2003-07-08 no assertion criteria provided CCR5 PROMOTER POLYMORPHISM germline Detail
protective 2003-07-08 no assertion criteria provided Susceptibility to HIV infection germline Detail
Benign 2021-02-18 criteria provided, single submitter CCR5-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.005 Cerebrovascular accident In the hypertensive group, CCR2 rs1799864, CCR5 rs1799987 and CCL11 rs4795895 we... BeFree 22769019 Detail
0.003 Cerebrovascular accident In the hypertensive group, CCR2 rs1799864, CCR5 rs1799987 and CCL11 rs4795895 we... BeFree 22769019 Detail
0.003 Cerebrovascular accident In the hypertensive group, CCR2 rs1799864, CCR5 rs1799987 and CCL11 rs4795895 we... BeFree 22769019 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000579.4(CCR5):c.-301+246A>G AND Acquired immunodeficiency syndrome, delayed progression to ClinVar Detail
NM_000579.4(CCR5):c.-301+246A>G AND CCR5 PROMOTER POLYMORPHISM ClinVar Detail
NM_000579.4(CCR5):c.-301+246A>G AND Susceptibility to HIV infection ClinVar Detail
NM_000579.4(CCR5):c.-301+246A>G AND CCR5-related disorder ClinVar Detail
In the hypertensive group, CCR2 rs1799864, CCR5 rs1799987 and CCL11 rs4795895 were nominally associa... DisGeNET Detail
In the hypertensive group, CCR2 rs1799864, CCR5 rs1799987 and CCL11 rs4795895 were nominally associa... DisGeNET Detail
In the hypertensive group, CCR2 rs1799864, CCR5 rs1799987 and CCL11 rs4795895 were nominally associa... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1799987 dbSNP
Genome
hg38
Position
chr3:46,370,444-46,370,444
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))
rs1799987
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4606
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7719
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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