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rs121912762

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2 Rh factor D(VII); see explanation
(C;T) 2 Rh factor D(VII); see explanation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position25284753
GeneRHD
is asnp
is mentioned by
dbSNPrs121912762
ebirs121912762
HLIrs121912762
Exacrs121912762
Varsomers121912762
Maprs121912762
PheGenIrs121912762
hapmaprs121912762
1000 genomesrs121912762
hgdprs121912762
ensemblrs121912762
gopubmedrs121912762
geneviewrs121912762
scholarrs121912762
googlers121912762
pharmgkbrs121912762
gwascentralrs121912762
openSNPrs121912762
23andMers121912762
23andMe allrs121912762
SNP Nexus

SNPshotrs121912762
SNPdbers121912762
MSV3drs121912762
GWAS Ctlgrs121912762
Max Magnitude2
rs121912762, also known as Leu110Pro, represents an important SNP in the rhesus factor RHD gene.

As reported in several publications, such as [PMID 7741145], the rs121912762(C) allele leads to a lack of epD8 and the expression of the low frequency antigen Rh40. The result of this a rare Rh-positive variant known as D(VII). RHD D(VII) individuals will be typed as Rh+, yet they can develop anti-D antibodies following immunization by pregnancy or transfusion.

See also: OMIM 111680.0002

OMIM111680
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912762(C;C)
Alt rs121912762(C;C)
Reference rs121912762(T;T)
Significance Pathogenic
Disease Rhd category d-vii
Variation info
Gene RHD
CLNDBN Rhd category d-vii
Reversed 0
HGVS NC_000001.10:g.25611244T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019286.23,