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rs33959855

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33959855(C;C)
Make rs33959855(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226955
GeneHBB
is asnp
is mentioned by
dbSNPrs33959855
ebirs33959855
HLIrs33959855
Exacrs33959855
Varsomers33959855
Maprs33959855
PheGenIrs33959855
hapmaprs33959855
1000 genomesrs33959855
hgdprs33959855
ensemblrs33959855
gopubmedrs33959855
geneviewrs33959855
scholarrs33959855
googlers33959855
pharmgkbrs33959855
gwascentralrs33959855
openSNPrs33959855
23andMers33959855
23andMe allrs33959855
SNP Nexus

SNPshotrs33959855
SNPdbers33959855
MSV3drs33959855
GWAS Ctlgrs33959855
Max Magnitude0
OMIM141900
Desc
Variant0063
Relatedalso
OMIM141900
Desc
Variant0072
Relatedalso
ClinVar
Risk rs33959855(A,C,T;A,C,T)
Alt rs33959855(A,C,T;A,C,T)
Reference rs33959855(G;G)
Significance Other
Disease HEMOGLOBIN D (IRAN) HEMOGLOBIN E (SASKATOON)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN D (IRAN) HEMOGLOBIN E (SASKATOON)
Reversed 1
HGVS NC_000011.9:g.5248185C>G; NC_000011.9:g.5248185C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016314.3, RCV000016333.2,


[PMID 939569] The occurrence of Hb E Saskatoon in Scotland.


[PMID 2283299] Compound heterozygosity for Hb E-Saskatoon or alpha 2 beta 2(22)(B4)Glu----Lys and beta-thalassemia type IVS-I-6 (T----C)


[PMID 8718699] The first case of Hb E-Saskatoon [alpha 2 beta(2)22(B4)Glu-->Lys] in a Japanese male in Asia.


[PMID 11791874] Homozygosity for Hb E-Saskatoon [beta22(B4)Glu-->Lys] in a Turkish patient.


[PMID 4715135] Haemoglobin D Iran: 2 22 glutamic acid leads to glutamine (B4).


[PMID 4725603] Hemoglobin D Iran alpha A2 beta 22 2-Glu leads to Gln in association with thalassemia.


[PMID 8195010] Hb D-Iran [beta 22(B4)Glu-->Gln] in southern Italy.


[PMID 1301930] A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms.