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rs33952850

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs33952850(G;G)
Make rs33952850(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226746
GeneHBB
is asnp
is mentioned by
dbSNPrs33952850
ebirs33952850
HLIrs33952850
Exacrs33952850
Varsomers33952850
Maprs33952850
PheGenIrs33952850
hapmaprs33952850
1000 genomesrs33952850
hgdprs33952850
ensemblrs33952850
gopubmedrs33952850
geneviewrs33952850
scholarrs33952850
googlers33952850
pharmgkbrs33952850
gwascentralrs33952850
openSNPrs33952850
23andMers33952850
23andMe allrs33952850
SNP Nexus

SNPshotrs33952850
SNPdbers33952850
MSV3drs33952850
GWAS Ctlgrs33952850
Max Magnitude0
OMIM141900
Desc
Variant0205
Relatedalso
OMIM141900
Desc
Variant0421
Relatedalso
ClinVar
Risk rs33952850(C,G;C,G)
Alt rs33952850(C,G;C,G)
Reference rs33952850(T;T)
Significance Other
Disease HEMOGLOBIN OKALOOSA HEMOGLOBIN BAB-SAADOUN
Variation info
Gene HBB
CLNDBN HEMOGLOBIN OKALOOSA HEMOGLOBIN BAB-SAADOUN
Reversed 1
HGVS NC_000011.9:g.5247976A>C; NC_000011.9:g.5247976A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016528.2, RCV000016772.2,


[PMID 4748512OA-icon.png] Hemoglobin Okaloosa (beta 48 (CD7) leucine leads to arginine). An unstable variant with low oxygen affinity.


[PMID 1517103] Hb Bab-Saadoun or alpha 2 beta (2)48(CD7)Leu----Pro, a mildly unstable variant found in an Arabian boy from Tunisia.