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rs63750073

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs63750073(C;T)
Make rs63750073(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position173481
GeneHBA2
is asnp
is mentioned by
dbSNPrs63750073
ebirs63750073
HLIrs63750073
Exacrs63750073
Varsomers63750073
Maprs63750073
PheGenIrs63750073
hapmaprs63750073
1000 genomesrs63750073
hgdprs63750073
ensemblrs63750073
gopubmedrs63750073
geneviewrs63750073
scholarrs63750073
googlers63750073
pharmgkbrs63750073
gwascentralrs63750073
openSNPrs63750073
23andMers63750073
23andMe allrs63750073
SNP Nexus

SNPshotrs63750073
SNPdbers63750073
MSV3drs63750073
GWAS Ctlgrs63750073
Max Magnitude0
OMIM141850
Desc
Variant0050
Relatedalso


ClinVar
Risk rs63750073(T;T)
Alt rs63750073(T;T)
Reference rs63750073(C;C)
Significance Other
Disease HEMOGLOBIN LOMBARD
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN LOMBARD
Reversed 0
HGVS NC_000016.9:g.223480C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016959.1,



[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)].