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rs36078803

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs36078803(C;G)
Make rs36078803(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5233032
GeneHBD
is asnp
is mentioned by
dbSNPrs36078803
dbSNP (classic)rs36078803
ClinGenrs36078803
ebirs36078803
HLIrs36078803
Exacrs36078803
Gnomadrs36078803
Varsomers36078803
LitVarrs36078803
Maprs36078803
PheGenIrs36078803
Biobankrs36078803
1000 genomesrs36078803
hgdprs36078803
ensemblrs36078803
geneviewrs36078803
scholarrs36078803
googlers36078803
pharmgkbrs36078803
gwascentralrs36078803
openSNPrs36078803
23andMers36078803
SNPshotrs36078803
SNPdbers36078803
MSV3drs36078803
GWAS Ctlgrs36078803
Max Magnitude0
OMIM142000
Desc
Variant0018
Relatedalso


ClinVar
Risk rs36078803(G;G)
Alt rs36078803(G;G)
Reference Rs36078803(C;C)
Significance Other
Disease HEMOGLOBIN A(2) ZAGREB
Variation info
Gene HBD
CLNDBN HEMOGLOBIN A(2) ZAGREB
Reversed 1
HGVS NC_000011.9:g.5254262G>C
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016206.1,



[PMID 6629826] Hb A2-Zagreb or alpha 2 delta 2(125)(H3)Gln replaced by Glu, a new delta chain variant in association with delta beta-thalassemia.