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rs33992775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33992775(C;G)
Make rs33992775(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5249767
GeneHBG1
is asnp
is mentioned by
dbSNPrs33992775
ebirs33992775
HLIrs33992775
Exacrs33992775
Varsomers33992775
Maprs33992775
PheGenIrs33992775
hapmaprs33992775
1000 genomesrs33992775
hgdprs33992775
ensemblrs33992775
gopubmedrs33992775
geneviewrs33992775
scholarrs33992775
googlers33992775
pharmgkbrs33992775
gwascentralrs33992775
openSNPrs33992775
23andMers33992775
23andMe allrs33992775
SNP Nexus

SNPshotrs33992775
SNPdbers33992775
MSV3drs33992775
GWAS Ctlgrs33992775
Max Magnitude0
OMIM142200
Desc
Variant0005
Relatedalso
OMIM142250
Desc
Variant0008
Relatedalso
ClinVar
Risk rs33992775(A,G;A,G)
Alt rs33992775(A,G;A,G)
Reference rs33992775(C;C)
Significance Other
Disease HEMOGLOBIN F (CALLUNA)
Variation info
Gene HBG1
CLNDBN HEMOGLOBIN F (CALLUNA)
Reversed 1
HGVS NC_000011.9:g.5270997G>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016149.1,


[PMID 6199326] Hb F-Calluna or alpha 2 gamma 2(12 Thr replaced by Arg; 75Ile; 136Ala) in a Caucasian baby.


[PMID 5763628] On the chemical abnormality of Hb "Alexandra", a fetal hemoglobin variant.


[PMID 13622677] New variant of human foetal haemoglobin.