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rs33935983

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33935983(C;C)
Make rs33935983(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226723
GeneHBB
is asnp
is mentioned by
dbSNPrs33935983
ebirs33935983
HLIrs33935983
Exacrs33935983
Varsomers33935983
Maprs33935983
PheGenIrs33935983
hapmaprs33935983
1000 genomesrs33935983
hgdprs33935983
ensemblrs33935983
gopubmedrs33935983
geneviewrs33935983
scholarrs33935983
googlers33935983
pharmgkbrs33935983
gwascentralrs33935983
openSNPrs33935983
23andMers33935983
23andMe allrs33935983
SNP Nexus

SNPshotrs33935983
SNPdbers33935983
MSV3drs33935983
GWAS Ctlgrs33935983
Max Magnitude0
OMIM141900
Desc
Variant0098
Relatedalso
OMIM141900
Desc
Variant0223
Relatedalso


ClinVar
Risk rs33935983(C,T;C,T)
Alt rs33935983(C,T;C,T)
Reference rs33935983(G;G)
Significance Other
Disease HEMOGLOBIN HAMADAN HEMOGLOBIN POISSY
Variation info
Gene HBB
CLNDBN HEMOGLOBIN HAMADAN HEMOGLOBIN POISSY
Reversed 1
HGVS NC_000011.9:g.5247953C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016369.2, RCV000016553.2,



[PMID 1122305] Haemoglobin hamadan: alpha-2A beta-2 56 (D7) glycine yields arginine.


[PMID 6508871] Hemoglobin Hamadan or alpha 2 beta 256(D7)Gly----Arg in a Turkish family.


[PMID 17654074] Hb Leeds [beta56(D7)Gly-->Cys]: a new hemoglobin that aggravates anemia in a child with beta(0)-thalassemia trait.