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rs33991910

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33991910(C;G)
Make rs33991910(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177406
GeneHBA1
is asnp
is mentioned by
dbSNPrs33991910
ebirs33991910
HLIrs33991910
Exacrs33991910
Varsomers33991910
Maprs33991910
PheGenIrs33991910
hapmaprs33991910
1000 genomesrs33991910
hgdprs33991910
ensemblrs33991910
gopubmedrs33991910
geneviewrs33991910
scholarrs33991910
googlers33991910
pharmgkbrs33991910
gwascentralrs33991910
openSNPrs33991910
23andMers33991910
23andMe allrs33991910
SNP Nexus

SNPshotrs33991910
SNPdbers33991910
MSV3drs33991910
GWAS Ctlgrs33991910
Max Magnitude0
OMIM141800
Desc
Variant0062
Relatedalso
OMIM141800
Desc
Variant0064
Relatedalso
OMIM141800
Desc
Variant0109
Relatedalso
ClinVar
Risk rs33991910(A,G,T;A,G,T)
Alt rs33991910(A,G,T;A,G,T)
Reference rs33991910(C;C)
Significance Other
Disease HEMOGLOBIN J (CUBUJUQUI) HEMOGLOBIN J (CAMAGUEY) HEMOGLOBIN NUNOBIKI
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN J (CUBUJUQUI) HEMOGLOBIN J (CAMAGUEY) HEMOGLOBIN NUNOBIKI
Reversed 0
HGVS NC_000016.9:g.227405C>A; NC_000016.9:g.227405C>G; NC_000016.9:g.227405C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017063.2, RCV000017061.2, RCV000017126.2,


[PMID 901812] Chemical characterization of a new haemoglobin variant haemoglobin J Cubujuqui (alpha2141(HC3)Arg replaced by Ser beta2).


[PMID 7338473] Hemoglobin Cubujuqui (alpha 141 Arg-Ser): functional consequences of the alteration of the C-terminus of the alpha chain of hemoglobin.


[PMID 640841] Hb J Camaguey alpha 2 141(HC3) Arg replaced by Gly beta 2: a new abnormal human hemoglobin.


[PMID 1787099] Hb J-Camaguey [alpha 141(HC3)Arg----Gly] associated with alpha-thalassemia-1 in an Australian family.


[PMID 6480361] A case of Hb J-Camaguey or alpha 2141(HC3)Arg----Gly beta 2 in a Chinese family.


[PMID 8537233] Detection of Hb J-Camaguey [alpha 141(HC3)Arg-->Gly] in three Spanish families.


[PMID 3973024OA-icon.png] A new hemoglobin variant, hemoglobin Nunobiki [alpha 141 (HC3) Arg----Cys]. Notable influence of the carboxy-terminal cysteine upon various physico-chemical characteristics of hemoglobin.