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rs35204496

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs35204496(A;T)
Make rs35204496(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226605
GeneHBB
is asnp
is mentioned by
dbSNPrs35204496
dbSNP (classic)rs35204496
ClinGenrs35204496
ebirs35204496
HLIrs35204496
Exacrs35204496
Gnomadrs35204496
Varsomers35204496
LitVarrs35204496
Maprs35204496
PheGenIrs35204496
Biobankrs35204496
1000 genomesrs35204496
hgdprs35204496
ensemblrs35204496
geneviewrs35204496
scholarrs35204496
googlers35204496
pharmgkbrs35204496
gwascentralrs35204496
openSNPrs35204496
23andMers35204496
SNPshotrs35204496
SNPdbers35204496
MSV3drs35204496
GWAS Ctlgrs35204496
Max Magnitude0
OMIM141900
Desc
Variant0128
Relatedalso
ClinVar
Risk rs35204496(T;T)
Alt rs35204496(T;T)
Reference Rs35204496(A;A)
Significance Other
Disease HEMOGLOBIN J (CORDOBA)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN J (CORDOBA)
Reversed 1
HGVS NC_000011.9:g.5247835T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016414.3,


[PMID 3384693] Hb J-Cordoba [alpha 2A beta 2(95)(FG2)Lys----Met]. A new Hb variant found in Argentina.