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rs33960931

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33960931(C;T)
Make rs33960931(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226743
GeneHBB
is asnp
is mentioned by
dbSNPrs33960931
ebirs33960931
HLIrs33960931
Exacrs33960931
Varsomers33960931
Maprs33960931
PheGenIrs33960931
hapmaprs33960931
1000 genomesrs33960931
hgdprs33960931
ensemblrs33960931
gopubmedrs33960931
geneviewrs33960931
scholarrs33960931
googlers33960931
pharmgkbrs33960931
gwascentralrs33960931
openSNPrs33960931
23andMers33960931
23andMe allrs33960931
SNP Nexus

SNPshotrs33960931
SNPdbers33960931
MSV3drs33960931
GWAS Ctlgrs33960931
Max Magnitude0
OMIM141900
Desc
Variant0155
Relatedalso
OMIM141900
Desc
Variant0513
Relatedalso
ClinVar
Risk rs33960931(G,T;G,T)
Alt rs33960931(G,T;G,T)
Reference rs33960931(C;C)
Significance Other
Disease HEMOGLOBIN LAS PALMAS HEMOGLOBIN COLIMA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN LAS PALMAS HEMOGLOBIN COLIMA
Reversed 1
HGVS NC_000011.9:g.5247973G>A; NC_000011.9:g.5247973G>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016451.2, RCV000016869.2,


[PMID 3384708] Hb Las Palmas or alpha 2 beta 2(49)(CD8)Ser----Phe, a mildly unstable hemoglobin variant.


[PMID 12484635] Hb Colima [beta 49(CD8)Ser-->Cys]: a new hemoglobin variant.