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rs35790721

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs35790721(A;T)
Make rs35790721(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5233043
GeneHBD
is asnp
is mentioned by
dbSNPrs35790721
dbSNP (classic)rs35790721
ClinGenrs35790721
ebirs35790721
HLIrs35790721
Exacrs35790721
Gnomadrs35790721
Varsomers35790721
LitVarrs35790721
Maprs35790721
PheGenIrs35790721
Biobankrs35790721
1000 genomesrs35790721
hgdprs35790721
ensemblrs35790721
geneviewrs35790721
scholarrs35790721
googlers35790721
pharmgkbrs35790721
gwascentralrs35790721
openSNPrs35790721
23andMers35790721
SNPshotrs35790721
SNPdbers35790721
MSV3drs35790721
GWAS Ctlgrs35790721
Max Magnitude0
OMIM142000
Desc
Variant0010
Relatedalso


ClinVar
Risk rs35790721(T;T)
Alt rs35790721(T;T)
Reference Rs35790721(A;A)
Significance Other
Disease HEMOGLOBIN A(2) MANZANARES
Variation info
Gene HBD
CLNDBN HEMOGLOBIN A(2) MANZANARES
Reversed 1
HGVS NC_000011.9:g.5254273T>A
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016197.1,



[PMID 6629825] Hb A2-Manzanares or alpha 2 delta 2 121 (GH4) Glu replaced by Val, an unstable delta chain variant observed in a Spanish family.