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rs1800944

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs1800944(C;T)
Make rs1800944(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position46373906
GeneCCR5, LOC102724297
is asnp
is mentioned by
dbSNPrs1800944
ebirs1800944
HLIrs1800944
Exacrs1800944
Varsomers1800944
Maprs1800944
PheGenIrs1800944
hapmaprs1800944
1000 genomesrs1800944
hgdprs1800944
ensemblrs1800944
gopubmedrs1800944
geneviewrs1800944
scholarrs1800944
googlers1800944
pharmgkbrs1800944
gwascentralrs1800944
openSNPrs1800944
23andMers1800944
23andMe allrs1800944
SNP Nexus

SNPshotrs1800944
SNPdbers1800944
MSV3drs1800944
GWAS Ctlgrs1800944
GMAF0.01148
Max Magnitude0
OMIM601373
Desc
Variant0004
Relatedalso
ClinVar
Risk rs1800944(G,T;G,T)
Alt rs1800944(G,T;G,T)
Reference rs1800944(C;C)
Significance Non-pathogenic
Disease CCR5 POLYMORPHISM
Variation info
Gene LOC102724297 CCR5
CLNDBN CCR5 POLYMORPHISM, AFRICAN-AMERICAN
Reversed 0
HGVS NC_000003.11:g.46415397C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008669.2,


[PMID 20206716OA-icon.png] Genetic variation within the gene encoding the HIV-1 CCR5 coreceptor in two South African populations.

GET Evidence
CCR5-A335V
aa_change Ala335Val
aa_change_short A335V
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.012
summary