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rs33924825

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33924825(C;C)
Make rs33924825(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5249786
GeneHBG1
is asnp
is mentioned by
dbSNPrs33924825
dbSNP (classic)rs33924825
ClinGenrs33924825
ebirs33924825
HLIrs33924825
Exacrs33924825
Gnomadrs33924825
Varsomers33924825
LitVarrs33924825
Maprs33924825
PheGenIrs33924825
Biobankrs33924825
1000 genomesrs33924825
hgdprs33924825
ensemblrs33924825
geneviewrs33924825
scholarrs33924825
googlers33924825
pharmgkbrs33924825
gwascentralrs33924825
openSNPrs33924825
23andMers33924825
SNPshotrs33924825
SNPdbers33924825
MSV3drs33924825
GWAS Ctlgrs33924825
Max Magnitude0
OMIM142200
Desc
Variant0017
Relatedalso
ClinVar
Risk rs33924825(A;A) rs33924825(C;C)
Alt rs33924825(A;A) rs33924825(C;C)
Reference Rs33924825(G;G)
Significance Other
Disease HEMOGLOBIN F (PORDENONE)
Variation info
Gene HBG1
CLNDBN HEMOGLOBIN F (PORDENONE)
Reversed 1
HGVS NC_000011.9:g.5271016C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016161.1,


[PMID 6183236] A new gamma chain variant: Hb F-Pordenone [gamma 6(A3) Glu replaced by Gln: 75ILE: 136ALA].


[PMID 5635604] Haemoglobin F Texas II (alpha-2 gamma-2, 6 Glu-Lys), the second of the haemogloin F Texas variants.