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rs63751150

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACC;ACC) 0 common in complete genomics
Make rs63751150(-;-)
Make rs63751150(-;ACC)
ReferenceGRCh38 38.1/141
Chromosome16
Position176951
GeneHBA1
is asnp
is mentioned by
dbSNPrs63751150
ebirs63751150
HLIrs63751150
Exacrs63751150
Varsomers63751150
Maprs63751150
PheGenIrs63751150
hapmaprs63751150
1000 genomesrs63751150
hgdprs63751150
ensemblrs63751150
gopubmedrs63751150
geneviewrs63751150
scholarrs63751150
googlers63751150
pharmgkbrs63751150
gwascentralrs63751150
openSNPrs63751150
23andMers63751150
23andMe allrs63751150
SNP Nexus

SNPshotrs63751150
SNPdbers63751150
MSV3drs63751150
GWAS Ctlgrs63751150
Max Magnitude0
OMIM141800
Desc
Variant0184
Relatedalso
ClinVar
Risk rs63751150(;)
Alt rs63751150(;)
Reference rs63751150(CCA;CCA)
Significance Other
Disease HEMOGLOBIN TAYBE
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN TAYBE
Reversed 0
HGVS NC_000016.9:g.226950_226952delACC
CLNSRC OMIM Allelic Variant
CLNACC RCV000017204.2,


[PMID 7942784] Compound heterozygosity for two alpha-globin gene defects, Hb Taybe (alpha 1; 38 or 39 minus Thr) and a poly A mutation (alpha 2; AATAAA-->AATAAG), results in a severe hemolytic anemia.


[PMID 7994622] Hb Taybe (alpha 38 or 39 THR deleted): an alpha-globin defect, silent in the heterozygous state and producing severe hemolytic anemia in the homozygous.


[PMID 9576334] HB Taybe: description of genetics and laboratory findings in an Israeli Arab family.