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rs35452098

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTG;CTG) 0 common in complete genomics
Make rs35452098(-;-)
Make rs35452098(-;CTG)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226664
GeneHBB
is asnp
is mentioned by
dbSNPrs35452098
dbSNP (classic)rs35452098
ClinGenrs35452098
ebirs35452098
HLIrs35452098
Exacrs35452098
Gnomadrs35452098
Varsomers35452098
LitVarrs35452098
Maprs35452098
PheGenIrs35452098
Biobankrs35452098
1000 genomesrs35452098
hgdprs35452098
ensemblrs35452098
geneviewrs35452098
scholarrs35452098
googlers35452098
pharmgkbrs35452098
gwascentralrs35452098
openSNPrs35452098
23andMers35452098
SNPshotrs35452098
SNPdbers35452098
MSV3drs35452098
GWAS Ctlgrs35452098
Max Magnitude0
OMIM141900
Desc
Variant0293
Relatedalso


ClinVar
Risk rs35452098(-;-)
Alt rs35452098(-;-)
Reference Rs35452098(CTG;CTG)
Significance Other
Disease HEMOGLOBIN VICKSBURG
Variation info
Gene HBB
CLNDBN HEMOGLOBIN VICKSBURG
Reversed 1
HGVS NC_000011.9:g.5247894_5247896delCAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000016636.2,



[PMID 6165992OA-icon.png] beta-Thalassemia present in cis to a new beta-chain structural variant, Hb Vicksburg [beta 75 (E19)Leu leads to 0].