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rs34502246

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34502246(A;A)
Make rs34502246(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position177024
GeneHBA1
is asnp
is mentioned by
dbSNPrs34502246
ebirs34502246
HLIrs34502246
Exacrs34502246
Varsomers34502246
Maprs34502246
PheGenIrs34502246
hapmaprs34502246
1000 genomesrs34502246
hgdprs34502246
ensemblrs34502246
gopubmedrs34502246
geneviewrs34502246
scholarrs34502246
googlers34502246
pharmgkbrs34502246
gwascentralrs34502246
openSNPrs34502246
23andMers34502246
23andMe allrs34502246
SNP Nexus

SNPshotrs34502246
SNPdbers34502246
MSV3drs34502246
GWAS Ctlgrs34502246
Max Magnitude0
OMIM141800
Desc
Variant0118
Relatedalso
ClinVar
Risk rs34502246(A;A)
Alt rs34502246(A;A)
Reference rs34502246(C;C)
Significance Other
Disease HEMOGLOBIN PONTOISE HEMOGLOBIN J (PONTOISE)
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN PONTOISE HEMOGLOBIN J (PONTOISE)
Reversed 0
HGVS NC_000016.9:g.227023C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017141.3, RCV000017142.3,


[PMID 849454] Hemoglobin Pontoise alpha63 Ala replaced by Asp(E12). A new fast moving variant.


[PMID 3583765] Hb J-Pontoise or alpha 2(63)(E12)Ala----Asp beta 2 in four members of a Spanish family.