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rs1141370

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1141370(A;A)
Make rs1141370(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226792
GeneHBB
is asnp
is mentioned by
dbSNPrs1141370
ebirs1141370
HLIrs1141370
Exacrs1141370
Varsomers1141370
Maprs1141370
PheGenIrs1141370
hapmaprs1141370
1000 genomesrs1141370
hgdprs1141370
ensemblrs1141370
gopubmedrs1141370
geneviewrs1141370
scholarrs1141370
googlers1141370
pharmgkbrs1141370
gwascentralrs1141370
openSNPrs1141370
23andMers1141370
23andMe allrs1141370
SNP Nexus

SNPshotrs1141370
SNPdbers1141370
MSV3drs1141370
GWAS Ctlgrs1141370
Max Magnitude0
OMIM141900
Desc
Variant0478
Relatedalso
ClinVar
Risk rs1141370(A,T;A,T)
Alt rs1141370(A,T;A,T)
Reference rs1141370(G;G)
Significance Other
Disease HEMOGLOBIN RIO CLARO
Variation info
Gene HBB
CLNDBN HEMOGLOBIN RIO CLARO
Reversed 1
HGVS NC_000011.9:g.5248022C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016833.2,


[PMID 10335985] Hb Rio Claro [beta34(B16)Val-->Met]: a novel electrophoretically silent variant found in association with Hb Hasharon [alpha47(CE5)Asp-->His] and alpha-thalassemia-2(-alpha3.7).


[PMID 12484637] Hb Rio Claro is caused by a mutation at the 33rd position of the beta-globin chain.