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Rs111033604

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Orientationplus
is asnp
is mentioned by
dbSNPrs111033604
PheGenIrs111033604
nextbiors111033604
hapmaprs111033604
1000 genomesrs111033604
hgdprs111033604
ensemblrs111033604
gopubmedrs111033604
geneviewrs111033604
scholarrs111033604
googlers111033604
pharmgkbrs111033604
gwascentralrs111033604
openSNPrs111033604
23andMers111033604
23andMe allrs111033604
SNP Nexus

SNPshotrs111033604
SNPdbers111033604
MSV3drs111033604
GeneHBA2
Chromosome16
Orientationplus
Position172942
ReferenceGRCh38 38.1/141
Max Magnitude
Make rs111033604(C;C)
Make rs111033604(C;G)
Make rs111033604(G;G)
OMIM141850
Desc
Variant0048
Relatedalso
ClinVar
Risk rs111033604(G;G)
Alt rs111033604(G;G)
Reference rs111033604(C;C)
Significance 255
Disease HEMOGLOBIN PARK RIDGE
ClinVar info
Gene HBA2
CLNDBN HEMOGLOBIN PARK RIDGE
Reversed 0
CLNHGVS NC_000016.9:g.222941C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016936.1


[PMID 12144061] Four new variants of the alpha2-globin gene without clinical or hematologic effects: Hb Park Ridge [alpha9(alpha7)Asn-->Lys (alpha2)], Hb Norton [alpha72(EF1)His-->Asp (alpha2)], Hb Lombard [alpha103(G10)His-->Tyr (alpha2)], and Hb San Antonio [A113(GH2)Leu-->Arg (A2)].