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rs34703513

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
(CC;CC) 0 common in clinvar
Make rs34703513(A;A)
Make rs34703513(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226776
GeneHBB
is asnp
is mentioned by
dbSNPrs34703513
ebirs34703513
HLIrs34703513
Exacrs34703513
Varsomers34703513
Maprs34703513
PheGenIrs34703513
hapmaprs34703513
1000 genomesrs34703513
hgdprs34703513
ensemblrs34703513
gopubmedrs34703513
geneviewrs34703513
scholarrs34703513
googlers34703513
pharmgkbrs34703513
gwascentralrs34703513
openSNPrs34703513
23andMers34703513
23andMe allrs34703513
SNP Nexus

SNPshotrs34703513
SNPdbers34703513
MSV3drs34703513
GWAS Ctlgrs34703513
Merged fromRs111033585
Max Magnitude0
OMIM141900
Desc
Variant0461
Relatedalso
ClinVar
Risk rs34703513(A;A) rs34703513(T;T)
Alt rs34703513(A;A) rs34703513(T;T)
Reference Rs34703513(C;C)
Significance Other
Disease HEMOGLOBIN LA CORUNA HEMOGLOBIN HINWIL
Variation info
Gene HBB
CLNDBN HEMOGLOBIN LA CORUNA HEMOGLOBIN HINWIL
Reversed 1
HGVS NC_000011.9:g.5248006G>A; NC_000011.9:g.5248006G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016889.2, RCV000016815.2,


[PMID 8745430] HB Hinwil or beta 38(C4)Thr-->Asn: a new beta chain variant detected in a Swiss family.


[PMID 16840229] Hb La Coruna [beta38(C4)Thr-->Ile]: a new hemoglobin variant leading to familial polycythemia.