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rs35699606

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(I;I) 0
Make rs35699606(-;-)
Make rs35699606(-;G)
Make rs35699606(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226994
GeneHBB
is asnp
is mentioned by
dbSNPrs35699606
ebirs35699606
HLIrs35699606
Exacrs35699606
Varsomers35699606
Maprs35699606
PheGenIrs35699606
hapmaprs35699606
1000 genomesrs35699606
hgdprs35699606
ensemblrs35699606
gopubmedrs35699606
geneviewrs35699606
scholarrs35699606
googlers35699606
pharmgkbrs35699606
gwascentralrs35699606
openSNPrs35699606
23andMers35699606
23andMe allrs35699606
SNP Nexus

SNPshotrs35699606
SNPdbers35699606
MSV3drs35699606
GWAS Ctlgrs35699606
Max Magnitude0
ClinVar
Risk rs35699606(G;G)
Alt rs35699606(G;G)
Reference rs35699606(;)
Significance Pathogenic
Disease beta^0^ Thalassemia alpha Thalassemia beta Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia alpha Thalassemia beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248225dupC
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016672.26, RCV000020331.1, RCV000029974.1,



[PMID 6714226OA-icon.png] Molecular characterization of seven beta-thalassemia mutations in Asian Indians.


[PMID 8537236] Beta-thalassemia intermedia in an Indian female with the Hb Hofu [beta 126(H4)Val-->Glu]-beta zero-thalassemia [codons 8/9 (+G)] combination.