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rs33935383

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33935383(C;T)
Make rs33935383(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225671
GeneHBB
is asnp
is mentioned by
dbSNPrs33935383
ebirs33935383
HLIrs33935383
Exacrs33935383
Varsomers33935383
Maprs33935383
PheGenIrs33935383
hapmaprs33935383
1000 genomesrs33935383
hgdprs33935383
ensemblrs33935383
gopubmedrs33935383
geneviewrs33935383
scholarrs33935383
googlers33935383
pharmgkbrs33935383
gwascentralrs33935383
openSNPrs33935383
23andMers33935383
23andMe allrs33935383
SNP Nexus

SNPshotrs33935383
SNPdbers33935383
MSV3drs33935383
GWAS Ctlgrs33935383
Max Magnitude0
OMIM141900
Desc
Variant0294
Relatedalso
OMIM141900
Desc
Variant0495
Relatedalso
ClinVar
Risk rs33935383(A,T;A,T)
Alt rs33935383(A,T;A,T)
Reference rs33935383(C;C)
Significance Other
Disease HEMOGLOBIN VILLEJUIF HEMOGLOBIN ERNZ
Variation info
Gene HBB
CLNDBN HEMOGLOBIN VILLEJUIF HEMOGLOBIN ERNZ
Reversed 1
HGVS NC_000011.9:g.5246901G>A; NC_000011.9:g.5246901G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016637.2, RCV000016851.2,


[PMID 2816924] Hemoglobin Villejuif [beta 123(H1) Thr----Ile]: a new variant found in coincidence with polycythemia vera.


[PMID 11300351] Identification of Hb Villejuif [beta123(H1)Thr-->Ile] in Southern Italy.


[PMID 11186258] Hb Ernz [beta123(H1)Thr-->Asn] and Hb Renert [beta133(H11)Val-->Ala]: two new neutral variants revealed by reversed phase high performance liquid chromatography analysis.