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rs63750950

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs63750950(C;C)
Make rs63750950(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177361
GeneHBA1
is asnp
is mentioned by
dbSNPrs63750950
ebirs63750950
HLIrs63750950
Exacrs63750950
Varsomers63750950
Maprs63750950
PheGenIrs63750950
hapmaprs63750950
1000 genomesrs63750950
hgdprs63750950
ensemblrs63750950
gopubmedrs63750950
geneviewrs63750950
scholarrs63750950
googlers63750950
pharmgkbrs63750950
gwascentralrs63750950
openSNPrs63750950
23andMers63750950
23andMe allrs63750950
SNP Nexus

SNPshotrs63750950
SNPdbers63750950
MSV3drs63750950
GWAS Ctlgrs63750950
Max Magnitude0
OMIM141800
Desc
Variant0126
Relatedalso
OMIM141800
Desc
Variant0181
Relatedalso
OMIM141850
Desc
Variant0037
Relatedalso
ClinVar
Risk rs63750950(A,C,T;A,C,T)
Alt rs63750950(A,C,T;A,C,T)
Reference rs63750950(G;G)
Significance Other
Disease HEMOGLOBIN SASSARI
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN SASSARI
Reversed 0
HGVS NC_000016.9:g.227360G>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017148.2,


[PMID 13856] Hemoglobin Tarrant: alpha126(H9) Asp leads to Asn. A new hemoglobin variant in the alpha1beta1 contact region showing high oxygen affinity and reduced cooperativity.


[PMID 7019159] Heterozygosity and homozygosity for the high oxygen affinity hemoglobin Tarrant or alpha 126 (H9) Asp replaced by Asn in two Mexican families.


[PMID 3667323] Hb Sassari or alpha (2)126(H9)Asp---His beta 2 observed in a family from Northern Sardinia.


[PMID 9494049] Hb Sassari [alpha 126(H9)Asp-->His] results from a GAC-->CAC mutation in the alpha 1-globin gene.