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rs33984863

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33984863(C;C)
Make rs33984863(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225633
GeneHBB
is asnp
is mentioned by
dbSNPrs33984863
dbSNP (old)rs33984863
ClinGenrs33984863
ebirs33984863
HLIrs33984863
Exacrs33984863
Gnomadrs33984863
Varsomers33984863
Maprs33984863
PheGenIrs33984863
Biobankrs33984863
1000 genomesrs33984863
hgdprs33984863
ensemblrs33984863
gopubmedrs33984863
geneviewrs33984863
scholarrs33984863
googlers33984863
pharmgkbrs33984863
gwascentralrs33984863
openSNPrs33984863
23andMers33984863
23andMe allrs33984863
SNP Nexus

SNPshotrs33984863
SNPdbers33984863
MSV3drs33984863
GWAS Ctlgrs33984863
Max Magnitude0
OMIM141900
Desc
Variant0501
Relatedalso
ClinVar
Risk rs33984863(A;A) rs33984863(C;C) rs33984863(T;T)
Alt rs33984863(A;A) rs33984863(C;C) rs33984863(T;T)
Reference Rs33984863(G;G)
Significance Other
Disease HEMOGLOBIN 'T LANGE LAND
Variation info
Gene HBB
CLNDBN HEMOGLOBIN 'T LANGE LAND
Reversed 1
HGVS NC_000011.9:g.5246863C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016857.2,


[PMID 20353351] Hb Perpignan [beta136(H14)Gly-->Ser], a silent variant associated with normal hematology.


[PMID 11570727] Hb 't Lange Land [beta136(H14)Gly --> Arg]: a new hemoglobin variant described in a Dutch patient of Chinese origin.