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rs35209591

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs35209591(C;C)
Make rs35209591(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226586
GeneHBB
is asnp
is mentioned by
dbSNPrs35209591
dbSNP (classic)rs35209591
ClinGenrs35209591
ebirs35209591
HLIrs35209591
Exacrs35209591
Gnomadrs35209591
Varsomers35209591
LitVarrs35209591
Maprs35209591
PheGenIrs35209591
Biobankrs35209591
1000 genomesrs35209591
hgdprs35209591
ensemblrs35209591
geneviewrs35209591
scholarrs35209591
googlers35209591
pharmgkbrs35209591
gwascentralrs35209591
openSNPrs35209591
23andMers35209591
SNPshotrs35209591
SNPdbers35209591
MSV3drs35209591
GWAS Ctlgrs35209591
Max Magnitude0
OMIM141900
Desc
Variant0225
Relatedalso
ClinVar
Risk rs35209591(A;A) rs35209591(C;C) rs35209591(T;T)
Alt rs35209591(A;A) rs35209591(C;C) rs35209591(T;T)
Reference Rs35209591(G;G)
Significance Other
Disease HEMOGLOBIN POTOMAC
Variation info
Gene HBB
CLNDBN HEMOGLOBIN POTOMAC
Reversed 1
HGVS NC_000011.9:g.5247816C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016557.2,


[PMID 563749] Hb Potomac (101 Glu replaced by Asp): speculations on placental oxygen transport in carriers of high-affinity hemoglobins.


[PMID 721612] Hemoglobin Potomac: clinical picture, biosynthesis and stability.