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rs35802118

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs35802118(A;A)
Make rs35802118(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226967
GeneHBB
is asnp
is mentioned by
dbSNPrs35802118
ebirs35802118
HLIrs35802118
Exacrs35802118
Varsomers35802118
Maprs35802118
PheGenIrs35802118
hapmaprs35802118
1000 genomesrs35802118
hgdprs35802118
ensemblrs35802118
gopubmedrs35802118
geneviewrs35802118
scholarrs35802118
googlers35802118
pharmgkbrs35802118
gwascentralrs35802118
openSNPrs35802118
23andMers35802118
23andMe allrs35802118
SNP Nexus

SNPshotrs35802118
SNPdbers35802118
MSV3drs35802118
GWAS Ctlgrs35802118
Max Magnitude0
OMIM141900
Desc
Variant0428
Relatedalso


ClinVar
Risk rs35802118(A,T;A,T)
Alt rs35802118(A,T;A,T)
Reference rs35802118(G;G)
Significance Other
Disease HEMOGLOBIN BADEN
Variation info
Gene HBB
CLNDBN HEMOGLOBIN BADEN
Reversed 1
HGVS NC_000011.9:g.5248197C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016781.2,



[PMID 1463768] Heterozygosity for the IVS-I-5 (G-->C) mutation with a G-->A change at codon 18 (Val-->Met; Hb Baden) in cis and a T-->G mutation at codon 126 (Val-->Gly; Hb Dhonburi) in trans resulting in a thalassemia intermedia.