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rs33957286

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33957286(A;A)
Make rs33957286(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225656
GeneHBB
is asnp
is mentioned by
dbSNPrs33957286
ebirs33957286
HLIrs33957286
Exacrs33957286
Varsomers33957286
Maprs33957286
PheGenIrs33957286
hapmaprs33957286
1000 genomesrs33957286
hgdprs33957286
ensemblrs33957286
gopubmedrs33957286
geneviewrs33957286
scholarrs33957286
googlers33957286
pharmgkbrs33957286
gwascentralrs33957286
openSNPrs33957286
23andMers33957286
23andMe allrs33957286
SNP Nexus

SNPshotrs33957286
SNPdbers33957286
MSV3drs33957286
GWAS Ctlgrs33957286
Max Magnitude0
OMIM141900
Desc
Variant0130
Relatedalso
OMIM141900
Desc
Variant0499
Relatedalso
ClinVar
Risk rs33957286(A,T;A,T)
Alt rs33957286(A,T;A,T)
Reference rs33957286(C;C)
Significance Other
Disease HEMOGLOBIN SITIA HEMOGLOBIN J (GUANTANAMO)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN SITIA HEMOGLOBIN J (GUANTANAMO)
Reversed 1
HGVS NC_000011.9:g.5246886G>A; NC_000011.9:g.5246886G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016850.2, RCV000016416.2,


[PMID 849451] Haemoglobin J Guantanamo (alpha 2 beta 2 128 (H6) Ala replaced by Asp). A new fast unstable haemoglobin found in a Cuban family.


[PMID 2384311] Hb J-Guantanamo in a Chilean baby.


[PMID 2841847] Hemoglobin J Guantanamo [alpha 2 beta 2 128 (H6) Ala----Asp] in association with hemoglobin C and alpha-thalassemia in a family from Benin.


[PMID 3384711] Hemoglobin J-Guantanamo [alpha 2 beta 2 128(H6)Ala----Asp] found in a Chinese family.


[PMID 8226098] Hb J-Guantanamo [alpha 2 beta 2 128(H6)Ala-->Asp] found in a Japanese family.


[PMID 11300349] Hb Sitia [beta128(H6)Ala-->Val]: an unstable variant with a substitution in the alpha1beta1 interface.