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rs1053878

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs1053878(C;T)
Make rs1053878(T;T)
ReferenceGRCh38 38.1/142
Chromosome9
Position133256264
GeneABO
is asnp
is mentioned by
dbSNPrs1053878
ebirs1053878
HLIrs1053878
Exacrs1053878
Varsomers1053878
Maprs1053878
PheGenIrs1053878
hapmaprs1053878
1000 genomesrs1053878
hgdprs1053878
ensemblrs1053878
gopubmedrs1053878
geneviewrs1053878
scholarrs1053878
googlers1053878
pharmgkbrs1053878
gwascentralrs1053878
openSNPrs1053878
23andMers1053878
23andMe allrs1053878
SNP Nexus

SNPshotrs1053878
SNPdbers1053878
MSV3drs1053878
GWAS Ctlgrs1053878
GMAF0.1428
Max Magnitude0
Influences ABO blood group
OMIM110300
Desc
Variant0004
Relatedalso
[PMID 19169360OA-icon.png] Histo-blood group gene polymorphisms as potential genetic modifiers of infection and cystic fibrosis lung disease severity.


GET Evidence
ABO-R156W
aa_change Arg156Trp
aa_change_short R156W
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



ABO Blood Type


ClinVar
Risk rs1053878(T;T)
Alt rs1053878(T;T)
Reference rs1053878(C;C)
Significance Other
Disease ABO blood group system
Variation info
Gene ABO
CLNDBN ABO blood group system
Reversed 1
HGVS NC_000009.11:g.136131651G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019312.3,