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rs33911106

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33911106(A;G)
Make rs33911106(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177105
GeneHBA1
is asnp
is mentioned by
dbSNPrs33911106
ebirs33911106
HLIrs33911106
Exacrs33911106
Varsomers33911106
Maprs33911106
PheGenIrs33911106
hapmaprs33911106
1000 genomesrs33911106
hgdprs33911106
ensemblrs33911106
gopubmedrs33911106
geneviewrs33911106
scholarrs33911106
googlers33911106
pharmgkbrs33911106
gwascentralrs33911106
openSNPrs33911106
23andMers33911106
23andMe allrs33911106
SNP Nexus

SNPshotrs33911106
SNPdbers33911106
MSV3drs33911106
GWAS Ctlgrs33911106
Max Magnitude0
OMIM141800
Desc
Variant0048
Relatedalso
OMIM141800
Desc
Variant0071
Relatedalso
OMIM141850
Desc
Variant0043
Relatedalso
ClinVar
Risk rs33911106(C,G,T;C,G,T)
Alt rs33911106(C,G,T;C,G,T)
Reference rs33911106(A;A)
Significance Other
Disease HEMOGLOBIN J (RAJAPPEN) HEMOGLOBIN HANDA HEMOGLOBIN MUNAKATA
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN J (RAJAPPEN) HEMOGLOBIN HANDA HEMOGLOBIN MUNAKATA
Reversed 0
HGVS NC_000016.9:g.227104A>C; NC_000016.9:g.227104A>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017070.2, RCV000017044.3, RCV000017045.3,


[PMID 5129592] Haemoglobin J Rajappen; 90 (FG2) Lys leads to Thr.


[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.


[PMID 3957691] The survey of abnormal hemoglobins in the Kobe district: Hb G-Coushatta [beta 22(B4)Glu----Ala], Hb Ankara (beta 10(A7)Ala----Asp], Hb Handa [alpha 90(FG2)Lys----Met], and Hb J-Habana [alpha 71(E20)Ala----Glu].


[PMID 6403040] A new electrophoretic variant of hemoglobin (Munakata) in which a lysine residue is replaced by a methionine residue at position 90 of the alpha-chain.


[PMID 6815131] HB Handa [alpha 90 (FG 2) Lys replaced by Met]: structure and biosynthesis of a new slightly higher oxygen affinity variant.


[PMID 12908804] Hb Clinico-Madrid II [alpha90(FG2)Lys-->Arg (alpha1)] and Hb El Escorial [alpha96(G3)Val-->Asp (alpha2)]: two new a chain variants found during a neonatal period study.