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rs33990253

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
(GT;GT) 0 common in clinvar
Make rs33990253(C;C)
Make rs33990253(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226711
GeneHBB
is asnp
is mentioned by
dbSNPrs33990253
ebirs33990253
HLIrs33990253
Exacrs33990253
Varsomers33990253
Maprs33990253
PheGenIrs33990253
hapmaprs33990253
1000 genomesrs33990253
hgdprs33990253
ensemblrs33990253
gopubmedrs33990253
geneviewrs33990253
scholarrs33990253
googlers33990253
pharmgkbrs33990253
gwascentralrs33990253
openSNPrs33990253
23andMers33990253
23andMe allrs33990253
SNP Nexus

SNPshotrs33990253
SNPdbers33990253
MSV3drs33990253
GWAS Ctlgrs33990253
Max Magnitude0
OMIM141900
Desc
Variant0303
Relatedalso
ClinVar
Risk rs33990253(C;C)
Alt rs33990253(C;C)
Reference rs33990253(G;G)
Significance Other
Disease HEMOGLOBIN YATSUSHIRO
Variation info
Gene HBB
CLNDBN HEMOGLOBIN YATSUSHIRO
Reversed 1
HGVS NC_000011.9:g.5247941C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016646.2,


[PMID 620052] A new hemoglobin variant. HB Yatsushiro alpha 2 A beta 2 60 Val replaced by Leu.