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rs63750752

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;G) 3 Alpha-thalassemia allele carrier
Make rs63750752(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position173482
GeneHBA2
is asnp
is mentioned by
dbSNPrs63750752
ebirs63750752
HLIrs63750752
Exacrs63750752
Varsomers63750752
Maprs63750752
PheGenIrs63750752
hapmaprs63750752
1000 genomesrs63750752
hgdprs63750752
ensemblrs63750752
gopubmedrs63750752
geneviewrs63750752
scholarrs63750752
googlers63750752
pharmgkbrs63750752
gwascentralrs63750752
openSNPrs63750752
23andMers63750752
23andMe allrs63750752
SNP Nexus

SNPshotrs63750752
SNPdbers63750752
MSV3drs63750752
GWAS Ctlgrs63750752
Max Magnitude3
OMIM141800
Desc
Variant0022
Relatedalso
ClinVar
Risk rs63750752(G,T;G,T)
Alt rs63750752(G,T;G,T)
Reference rs63750752(A;A)
Significance Untested
Disease
Variation info
Gene HBA2
CLNDBN
Reversed 0
HGVS NC_000016.9:g.223481A>G; NC_000016.9:g.223481A>T
CLNSRC
CLNACC


[PMID 6547932] The characterization of hemoglobin Manitoba or alpha (2)102(G9)Ser----Arg beta 2 and hemoglobin Contaldo or alpha (2)103(G10)His----Arg beta 2 by high performance liquid chromatography.


[PMID 16533721] Hb Bronovo, a new globin gene mutation at alpha2 103 (His->Leu) associated with an alpha thalassemia phenotype.