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rs121912763

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912763(G;G)
Make rs121912763(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position25303329
GeneRHD
is asnp
is mentioned by
dbSNPrs121912763
ebirs121912763
HLIrs121912763
Exacrs121912763
Varsomers121912763
Maprs121912763
PheGenIrs121912763
hapmaprs121912763
1000 genomesrs121912763
hgdprs121912763
ensemblrs121912763
gopubmedrs121912763
geneviewrs121912763
scholarrs121912763
googlers121912763
pharmgkbrs121912763
gwascentralrs121912763
openSNPrs121912763
23andMers121912763
23andMe allrs121912763
SNP Nexus

SNPshotrs121912763
SNPdbers121912763
MSV3drs121912763
GWAS Ctlgrs121912763
GMAF0.0004591
Max Magnitude0
OMIM111680
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912763(G;G)
Alt rs121912763(G;G)
Reference rs121912763(T;T)
Significance Pathogenic
Disease Rhd
Variation info
Gene RHD
CLNDBN Rhd, weak d, type I
Reversed 0
HGVS NC_000001.10:g.25629820T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019287.27,



rs121912763 is a polymorphism in the RHD gene known as weak Rh D, and formerly known as D(u).

A total of 16 different molecular weak D types plus 2 alleles characteristic of partial D have been identified. Most, if not all, weak D phenotypes carry altered RhD proteins, suggesting a causal relationship. Genotyping of weak D may guide Rhesus-negative transfusion policy for such molecular weak D types that were prone to develop anti-D, and who risk transfusion reactions if transfused with Rh D positive blood.