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rs35225141

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common in complete genomics
(I;I) 0
Make rs35225141(-;G)
Make rs35225141(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225720
GeneHBB
is asnp
is mentioned by
dbSNPrs35225141
ebirs35225141
HLIrs35225141
Exacrs35225141
Varsomers35225141
Maprs35225141
PheGenIrs35225141
hapmaprs35225141
1000 genomesrs35225141
hgdprs35225141
ensemblrs35225141
gopubmedrs35225141
geneviewrs35225141
scholarrs35225141
googlers35225141
pharmgkbrs35225141
gwascentralrs35225141
openSNPrs35225141
23andMers35225141
23andMe allrs35225141
SNP Nexus

SNPshotrs35225141
SNPdbers35225141
MSV3drs35225141
GWAS Ctlgrs35225141
Max Magnitude0
OMIM141900
Desc
Variant0329
Relatedalso


ClinVar
Risk rs35225141(G;G)
Alt rs35225141(G;G)
Reference rs35225141(;)
Significance Pathogenic
Disease beta^0^ Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia
Reversed 1
HGVS NC_000011.9:g.5246951dupC
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016668.26,



[PMID 3683554] Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA.