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rs33948578

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs33948578(G;G)
Make rs33948578(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226794
GeneHBB
is asnp
is mentioned by
dbSNPrs33948578
ebirs33948578
HLIrs33948578
Exacrs33948578
Varsomers33948578
Maprs33948578
PheGenIrs33948578
hapmaprs33948578
1000 genomesrs33948578
hgdprs33948578
ensemblrs33948578
gopubmedrs33948578
geneviewrs33948578
scholarrs33948578
googlers33948578
pharmgkbrs33948578
gwascentralrs33948578
openSNPrs33948578
23andMers33948578
23andMe allrs33948578
SNP Nexus

SNPshotrs33948578
SNPdbers33948578
MSV3drs33948578
GWAS Ctlgrs33948578
Max Magnitude0
OMIM141900
Desc
Variant0044
Relatedalso
OMIM141900
Desc
Variant0218
Relatedalso
OMIM141900
Desc
Variant0444
Relatedalso
ClinVar
Risk rs33948578(A,C,G;A,C,G)
Alt rs33948578(A,C,G;A,C,G)
Reference rs33948578(T;T)
Significance Other
Disease HEMOGLOBIN CASTILLA HEMOGLOBIN PERTH HEMOGLOBIN ABRAHAM LINCOLN HEMOGLOBIN KOBE HEMOGLOBIN MEDICINE LAKE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN CASTILLA HEMOGLOBIN PERTH HEMOGLOBIN ABRAHAM LINCOLN HEMOGLOBIN KOBE HEMOGLOBIN MEDICINE LAKE
Reversed 1
HGVS NC_000011.9:g.5248024A>C; NC_000011.9:g.5248024A>G; NC_000011.9:g.5248024A>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016295.2, RCV000016546.2, RCV000016547.2, RCV000016548.2, RCV000016807.2,


[PMID 402773] Congenital Heinz body haemolytic anaemia due to haemoglobin Perth in a Nama child seemingly aggravated by the high nitrate content of the water supply.


[PMID 4127713] Haemoglobin Perth: beta-32 (B14) Leu leads to Pro, an unstable haemoglobin causing haemolysis.


[PMID 4352462OA-icon.png] Hemoglobin Abraham Lincoln, beta32 (B14) leucine leads to proline. An unstable variant producing severe hemolytic disease.


[PMID 11939520] Unstable Hb Perth in a Taiwanese subject: a T-->C substitution at codon 32 of the beta-globin gene creates an MspI site.


[PMID 14649317] Hb Castilla [beta32(B14)Leu --> Arg] caused by a de novo mutation.


[PMID 7660732] Morphohistochemical relationships between adrenal cortex and major salivary glands in response to chronic suramin treatment.