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rs1800452

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1800452(A;A)
Make rs1800452(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position46373570
GeneCCR5, LOC102724297
is asnp
is mentioned by
dbSNPrs1800452
ebirs1800452
HLIrs1800452
Exacrs1800452
Varsomers1800452
Maprs1800452
PheGenIrs1800452
hapmaprs1800452
1000 genomesrs1800452
hgdprs1800452
ensemblrs1800452
gopubmedrs1800452
geneviewrs1800452
scholarrs1800452
googlers1800452
pharmgkbrs1800452
gwascentralrs1800452
openSNPrs1800452
23andMers1800452
23andMe allrs1800452
SNP Nexus

SNPshotrs1800452
SNPdbers1800452
MSV3drs1800452
GWAS Ctlgrs1800452
GMAF0.01974
Max Magnitude0
OMIM601373
Desc
Variant0003
Relatedalso
ClinVar
Risk rs1800452(A;A)
Alt rs1800452(A;A)
Reference rs1800452(G;G)
Significance Non-pathogenic
Disease CCR5 POLYMORPHISM
Variation info
Gene LOC102724297 CCR5
CLNDBN CCR5 POLYMORPHISM, ORIENTAL 2
Reversed 0
HGVS NC_000003.11:g.46415061G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008668.2,


[PMID 17705862OA-icon.png] Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.

GET Evidence
CCR5-R223Q
aa_change Arg223Gln
aa_change_short R223Q
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.00111628
summary