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rs28933078

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs28933078(A;C)
Make rs28933078(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5254429
GeneHBG2
is asnp
is mentioned by
dbSNPrs28933078
ebirs28933078
HLIrs28933078
Exacrs28933078
Varsomers28933078
Maprs28933078
PheGenIrs28933078
hapmaprs28933078
1000 genomesrs28933078
hgdprs28933078
ensemblrs28933078
gopubmedrs28933078
geneviewrs28933078
scholarrs28933078
googlers28933078
pharmgkbrs28933078
gwascentralrs28933078
openSNPrs28933078
23andMers28933078
23andMe allrs28933078
SNP Nexus

SNPshotrs28933078
SNPdbers28933078
MSV3drs28933078
GWAS Ctlgrs28933078
Max Magnitude0
OMIM142250
DescHEMOGLOBIN F (SACROMONTE)
Variant0038
Relatedalso
Neighborrs1061234
Distance49
OMIM142250
Desc
Variant0042
Relatedalso
ClinVar
Risk rs28933078(C,G;C,G)
Alt rs28933078(C,G;C,G)
Reference rs28933078(A;A)
Significance Other
Disease HEMOGLOBIN F (EMIRATES) HEMOGLOBIN F (SACROMONTE)
Variation info
Gene HBG2
CLNDBN HEMOGLOBIN F (EMIRATES) HEMOGLOBIN F (SACROMONTE)
Reversed 1
HGVS NC_000011.9:g.5275659T>C; NC_000011.9:g.5275659T>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016137.1, RCV000016133.2,


[PMID 7558873] Two fetal hemoglobin variants affecting the same residue: Hb F-Emirates [G gamma 59(E3)Lys-->Glu] and Hb F-Sacromonte [G gamma 59(E3)Lys-->Gln].


[PMID 7687241] Hb F-Sacromonte or alpha 2G gamma (2)59(E3)Lys-->Gln observed in a Spanish newborn and his mother.