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rs35849199

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs35849199(C;C)
Make rs35849199(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225705
GeneHBB
is asnp
is mentioned by
dbSNPrs35849199
ebirs35849199
HLIrs35849199
Exacrs35849199
Varsomers35849199
Maprs35849199
PheGenIrs35849199
hapmaprs35849199
1000 genomesrs35849199
hgdprs35849199
ensemblrs35849199
gopubmedrs35849199
geneviewrs35849199
scholarrs35849199
googlers35849199
pharmgkbrs35849199
gwascentralrs35849199
openSNPrs35849199
23andMers35849199
23andMe allrs35849199
SNP Nexus

SNPshotrs35849199
SNPdbers35849199
MSV3drs35849199
GWAS Ctlgrs35849199
Max Magnitude0
OMIM141900
Desc
Variant0117
Relatedalso


ClinVar
Risk rs35849199(C;C)
Alt rs35849199(C;C)
Reference rs35849199(T;T)
Significance Other
Disease HEMOGLOBIN INDIANAPOLIS Heinz body anemia
Variation info
Gene HBB
CLNDBN HEMOGLOBIN INDIANAPOLIS Heinz body anemia
Reversed 1
HGVS NC_000011.9:g.5246935A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016392.2, RCV000016393.26,



[PMID 429365] The structure of hemoglobin Indianapolis [beta112(G14) arginine]. An unstable variant detectable only by isotopic labeling.


[PMID 447835OA-icon.png] Hemoglobin Indianapolis (beta 112[G14] arginine). An unstable beta-chain variant producing the phenotype of severe beta-thalassemia.


[PMID 3781865] A case of hemoglobin Indianapolis [beta 112(G14) Cys----Arg] in an individual from Cordoba, Spain.