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rs35949130

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AATAA;AATAA) 0
(ATAAA;ATAAA) 0 common in clinvar
(I;I) 0
(TAAAA;TAAAA) 0 common in clinvar
Make rs35949130(-;-)
Make rs35949130(-;AATAA)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225486
GeneHBB
is asnp
is mentioned by
dbSNPrs35949130
ebirs35949130
HLIrs35949130
Exacrs35949130
Varsomers35949130
Maprs35949130
PheGenIrs35949130
hapmaprs35949130
1000 genomesrs35949130
hgdprs35949130
ensemblrs35949130
gopubmedrs35949130
geneviewrs35949130
scholarrs35949130
googlers35949130
pharmgkbrs35949130
gwascentralrs35949130
openSNPrs35949130
23andMers35949130
23andMe allrs35949130
SNP Nexus

SNPshotrs35949130
SNPdbers35949130
MSV3drs35949130
GWAS Ctlgrs35949130
Max Magnitude0
OMIM141900
Desc
Variant0417
Relatedalso


ClinVar
Risk rs35949130(;)
Alt rs35949130(;)
Reference rs35949130(TAAAA;TAAAA)
Significance Pathogenic
Disease Beta-plus-thalassemia
Variation info
Gene HBB
CLNDBN Beta-plus-thalassemia
Reversed 1
HGVS NC_000011.9:g.5246714_5246718delTTTTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000016768.26,



[PMID 1705411] Molecular studies of beta-thalassemia in Israel. Mutational analysis and expression studies.