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rs28362692

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs28362692(C;T)
Make rs28362692(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position30912043
GeneAQP1
is asnp
is mentioned by
dbSNPrs28362692
ebirs28362692
HLIrs28362692
Exacrs28362692
Varsomers28362692
Maprs28362692
PheGenIrs28362692
hapmaprs28362692
1000 genomesrs28362692
hgdprs28362692
ensemblrs28362692
gopubmedrs28362692
geneviewrs28362692
scholarrs28362692
googlers28362692
pharmgkbrs28362692
gwascentralrs28362692
openSNPrs28362692
23andMers28362692
23andMe allrs28362692
SNP Nexus

SNPshotrs28362692
SNPdbers28362692
MSV3drs28362692
GWAS Ctlgrs28362692
GMAF0.01561
Max Magnitude0
OMIM107776
DescCOLTON BLOOD GROUP POLYMORPHISM
Variant0001
Relatedalso


ClinVar
Risk rs28362692(T;T)
Alt rs28362692(T;T)
Reference rs28362692(C;C)
Significance Non-pathogenic
Disease COLTON BLOOD GROUP POLYMORPHISM
Variation info
Gene AQP1
CLNDBN COLTON BLOOD GROUP POLYMORPHISM
Reversed 0
HGVS NC_000007.13:g.30951658C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019424.2,



[PMID 21257350OA-icon.png] DNA-based methods in the immunohematology reference laboratory.


GET Evidence
AQP1-A45V
aa_change Ala45Val
aa_change_short A45V
impact pharmacogenetic
qualified_impact Low clinical importance, Uncertain pharmacogenetic
overall_frequency 0.015625
summary Colton blood group polymorphism Co(b). This antigen system can sometimes be responsible for mild or moderate hemolytic transfusion reactions.