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rs35477349

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common in complete genomics
(I;I) 0
Make rs35477349(-;T)
Make rs35477349(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226942
GeneHBB
is asnp
is mentioned by
dbSNPrs35477349
ebirs35477349
HLIrs35477349
Exacrs35477349
Varsomers35477349
Maprs35477349
PheGenIrs35477349
hapmaprs35477349
1000 genomesrs35477349
hgdprs35477349
ensemblrs35477349
gopubmedrs35477349
geneviewrs35477349
scholarrs35477349
googlers35477349
pharmgkbrs35477349
gwascentralrs35477349
openSNPrs35477349
23andMers35477349
23andMe allrs35477349
SNP Nexus

SNPshotrs35477349
SNPdbers35477349
MSV3drs35477349
GWAS Ctlgrs35477349
Max Magnitude0
OMIM141900
Desc
Variant0475
Relatedalso


ClinVar
Risk rs35477349(T;T)
Alt rs35477349(T;T)
Reference rs35477349(;)
Significance Pathogenic
Disease beta^0^ Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248172_5248173insA
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016829.23,



[PMID 9494052] A new beta-thalassemia allele, codon 26 (GAG-->GTAG), found in a Japanese.