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rs369473842

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 7 IN*B/B Indian Blood Group; possible donor of very rare blood type
(C;G) 3 Carrier of a single IN*A Indian Blood Group allele
(G;G) 0 Indian Blood Group IN*B/B
ReferenceGRCh38.p7 38.3/151
Chromosome11
Position35176644
GeneCD44
is asnp
is mentioned by
dbSNPrs369473842
dbSNP (classic)rs369473842
ClinGenrs369473842
ebirs369473842
HLIrs369473842
Exacrs369473842
Gnomadrs369473842
Varsomers369473842
LitVarrs369473842
Maprs369473842
PheGenIrs369473842
Biobankrs369473842
1000 genomesrs369473842
hgdprs369473842
ensemblrs369473842
geneviewrs369473842
scholarrs369473842
googlers369473842
pharmgkbrs369473842
gwascentralrs369473842
openSNPrs369473842
23andMers369473842
SNPshotrs369473842
SNPdbers369473842
MSV3drs369473842
GWAS Ctlgrs369473842
Max Magnitude7

Known more commonly as either 252G>C or Arp46Pro (R46P), the rs369473842(C) variant leads to the absence of the Indian B antigen, at least when present in two copies. The absence of the Indian B antigen leads to the IN*A/A phenotype, is generally only observed (rarely) in people of Pakistani, Indian or Iranian descent.

One appeal for IN*A/A donors (of blood type O or A) to help a 2 year old child requiring blood transfusions has been posted by OneBlood. In SNP nomenclature, and therefore in Promethease reports, this would be reported as rs369473842(C;C).

Note: an incorrect assignment of a different SNP (rs121909545‎) to this variant is reported in OMIM, ClinVar and some other databases.