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rs63749927

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs63749927(A;A)
Make rs63749927(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position177344
GeneHBA1
is asnp
is mentioned by
dbSNPrs63749927
ebirs63749927
HLIrs63749927
Exacrs63749927
Varsomers63749927
Maprs63749927
PheGenIrs63749927
hapmaprs63749927
1000 genomesrs63749927
hgdprs63749927
ensemblrs63749927
gopubmedrs63749927
geneviewrs63749927
scholarrs63749927
googlers63749927
pharmgkbrs63749927
gwascentralrs63749927
openSNPrs63749927
23andMers63749927
23andMe allrs63749927
SNP Nexus

SNPshotrs63749927
SNPdbers63749927
MSV3drs63749927
GWAS Ctlgrs63749927
Max Magnitude0
OMIM141800
Desc
Variant0060
Relatedalso
ClinVar
Risk rs63749927(A;A)
Alt rs63749927(A;A)
Reference rs63749927(C;C)
Significance Other
Disease HEMOGLOBIN J (BIRMINGHAM) HEMOGLOBIN J (MEERUT)
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN J (BIRMINGHAM) HEMOGLOBIN J (MEERUT)
Reversed 0
HGVS NC_000016.9:g.227343C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017059.2, RCV000017060.2,


[PMID 2737912] Hb J-Meerut [alpha 120(H3)Ala----Glu] found in a Japanese family.


[PMID 4600474] Hemoglobin J Meerut: alpha120 Ala leads to Glu.


[PMID 7713747] A case of HB J-Meerut (or Hb J-Birmingham) [alpha 120(H3)Ala-->Glu].


[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.