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rs63749865

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs63749865(C;C)
Make rs63749865(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177366
GeneHBA1
is asnp
is mentioned by
dbSNPrs63749865
ebirs63749865
HLIrs63749865
Exacrs63749865
Varsomers63749865
Maprs63749865
PheGenIrs63749865
hapmaprs63749865
1000 genomesrs63749865
hgdprs63749865
ensemblrs63749865
gopubmedrs63749865
geneviewrs63749865
scholarrs63749865
googlers63749865
pharmgkbrs63749865
gwascentralrs63749865
openSNPrs63749865
23andMers63749865
23andMe allrs63749865
SNP Nexus

SNPshotrs63749865
SNPdbers63749865
MSV3drs63749865
GWAS Ctlgrs63749865
Max Magnitude0
OMIM141800
Desc
Variant0079
Relatedalso
ClinVar
Risk rs63749865(C,T;C,T)
Alt rs63749865(C,T;C,T)
Reference rs63749865(G;G)
Significance Other
Disease HEMOGLOBIN JACKSON
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN JACKSON
Reversed 0
HGVS NC_000016.9:g.227365G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017077.2,


[PMID 949045] Hemoglobin Jackson, alpha 127 (H10) Lys replaced by Asn.


[PMID 6655018] Identification of the alpha chain abnormal hemoglobin Jackson (alpha 127 Lys leads to Asn) after isolation of the core peptide by high-performance liquid chromatography.