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rs33948615

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33948615(A;A)
Make rs33948615(A;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position5226783
GeneHBB
is asnp
is mentioned by
dbSNPrs33948615
ebirs33948615
HLIrs33948615
Exacrs33948615
Varsomers33948615
Maprs33948615
PheGenIrs33948615
hapmaprs33948615
1000 genomesrs33948615
hgdprs33948615
ensemblrs33948615
gopubmedrs33948615
geneviewrs33948615
scholarrs33948615
googlers33948615
pharmgkbrs33948615
gwascentralrs33948615
openSNPrs33948615
23andMers33948615
23andMe allrs33948615
SNP Nexus

SNPshotrs33948615
SNPdbers33948615
MSV3drs33948615
GWAS Ctlgrs33948615
Max Magnitude0
OMIM141900
Desc
Variant0158
Relatedalso
OMIM141900
Desc
Variant0199
Relatedalso
OMIM141900
Desc
Variant0487
Relatedalso


ClinVar
Risk rs33948615(A,G,T;A,G,T)
Alt rs33948615(A,G,T;A,G,T)
Reference rs33948615(C;C)
Significance Other
Disease HEMOGLOBIN NORTH CHICAGO HEMOGLOBIN BRIE COMTE ROBERT HEMOGLOBIN LINKOPING HEMOGLOBIN MEILAHTI
Variation info
Gene HBB
CLNDBN HEMOGLOBIN NORTH CHICAGO HEMOGLOBIN BRIE COMTE ROBERT HEMOGLOBIN LINKOPING HEMOGLOBIN MEILAHTI
Reversed 1
HGVS NC_000011.9:g.5248013G>A; NC_000011.9:g.5248013G>C; NC_000011.9:g.5248013G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016520.2, RCV000016842.2, RCV000016455.3, RCV000016456.3,



[PMID 1445029] The use of the polymerase chain reaction in the identification of a high oxygen affinity haemoglobin--Hb Finlandia.


[PMID 3096913] Hemoglobin Linkoping [beta 36 (C2) Pro----Thr] in a large Finnish family from Astoria, Oregon, USA.


[PMID 6548480] Hb-Linkoping (beta 36 Pro----Thr): a new hemoglobin mutant characterized by reversed-phase high-performance liquid chromatography.


[PMID 3937824] Hemoglobin North Chicago (beta 36 [C2] proline----serine): a new high affinity hemoglobin.


[PMID 10490142] Hb Brie Comte Robert [beta36(C2)Pro-->Ala]: a new hemoglobin variant with high oxygen affinity and marked hydrophobic properties.