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rs35383398

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common in complete genomics
Make rs35383398(-;G)
Make rs35383398(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226976
GeneHBB
is asnp
is mentioned by
dbSNPrs35383398
ebirs35383398
HLIrs35383398
Exacrs35383398
Varsomers35383398
Maprs35383398
PheGenIrs35383398
hapmaprs35383398
1000 genomesrs35383398
hgdprs35383398
ensemblrs35383398
gopubmedrs35383398
geneviewrs35383398
scholarrs35383398
googlers35383398
pharmgkbrs35383398
gwascentralrs35383398
openSNPrs35383398
23andMers35383398
23andMe allrs35383398
SNP Nexus

SNPshotrs35383398
SNPdbers35383398
MSV3drs35383398
GWAS Ctlgrs35383398
Max Magnitude0
OMIM141900
Desc
Variant0336
Relatedalso
ClinVar
Risk rs35383398(G;G)
Alt rs35383398(G;G)
Reference rs35383398(;)
Significance Pathogenic
Disease beta^0^ Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248207dupC
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016683.26,


[PMID 2901867] A novel beta-thalassemia frameshift mutation (codon 14/15), detectable by direct visualization of abnormal restriction fragment in amplified genomic DNA.