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rs33933481

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33933481(A;A)
Make rs33933481(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position173550
GeneHBA2
is asnp
is mentioned by
dbSNPrs33933481
ebirs33933481
HLIrs33933481
Exacrs33933481
Varsomers33933481
Maprs33933481
PheGenIrs33933481
hapmaprs33933481
1000 genomesrs33933481
hgdprs33933481
ensemblrs33933481
gopubmedrs33933481
geneviewrs33933481
scholarrs33933481
googlers33933481
pharmgkbrs33933481
gwascentralrs33933481
openSNPrs33933481
23andMers33933481
23andMe allrs33933481
SNP Nexus

SNPshotrs33933481
SNPdbers33933481
MSV3drs33933481
GWAS Ctlgrs33933481
Max Magnitude0
OMIM141800
Desc
Variant0181
Relatedalso
OMIM141850
Desc
Variant0037
Relatedalso
ClinVar
Risk rs33933481(A,C,T;A,C,T)
Alt rs33933481(A,C,T;A,C,T)
Reference rs33933481(G;G)
Significance Other
Disease HEMOGLOBIN TARRANT
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN TARRANT
Reversed 0
HGVS NC_000016.9:g.223549G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016948.1,


[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.