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rs33935527

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33935527(C;T)
Make rs33935527(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225690
GeneHBB
is asnp
is mentioned by
dbSNPrs33935527
dbSNP (classic)rs33935527
ClinGenrs33935527
ebirs33935527
HLIrs33935527
Exacrs33935527
Gnomadrs33935527
Varsomers33935527
LitVarrs33935527
Maprs33935527
PheGenIrs33935527
Biobankrs33935527
1000 genomesrs33935527
hgdprs33935527
ensemblrs33935527
geneviewrs33935527
scholarrs33935527
googlers33935527
pharmgkbrs33935527
gwascentralrs33935527
openSNPrs33935527
23andMers33935527
SNPshotrs33935527
SNPdbers33935527
MSV3drs33935527
GWAS Ctlgrs33935527
Max Magnitude0
OMIM141900
Desc
Variant0494
Relatedalso
ClinVar
Risk rs33935527(A;A) rs33935527(G;G) rs33935527(T;T)
Alt rs33935527(A;A) rs33935527(G;G) rs33935527(T;T)
Reference Rs33935527(C;C)
Significance Untested
Disease
Variation info
Gene HBB
CLNDBN
Reversed 1
HGVS NC_000011.9:g.5246920G>A; NC_000011.9:g.5246920G>C; NC_000011.9:g.5246920G>T
CLNSRC
CLNACC


[PMID 10870882] Hb Tsukumi [beta117(G19)His-->Tyr]: a new hemoglobin variant found in a Japanese male.


[PMID 11300344] Hb Tsukumi [beta117(G19)His-->Tyr] found in a Moroccan woman.


[PMID 10081991] Hb Brent [beta117(G19)His-->Asn]: a new hemoglobin variant found during routine antenatal screening.


[PMID 19205973] Hb North York [beta 117(G19)His-->Asp]: a new beta chain hemoglobin variant.