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rs35020253

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs35020253(C;C)
Make rs35020253(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5253366
GeneHBG2
is asnp
is mentioned by
dbSNPrs35020253
ebirs35020253
HLIrs35020253
Exacrs35020253
Varsomers35020253
Maprs35020253
PheGenIrs35020253
hapmaprs35020253
1000 genomesrs35020253
hgdprs35020253
ensemblrs35020253
gopubmedrs35020253
geneviewrs35020253
scholarrs35020253
googlers35020253
pharmgkbrs35020253
gwascentralrs35020253
openSNPrs35020253
23andMers35020253
23andMe allrs35020253
SNP Nexus

SNPshotrs35020253
SNPdbers35020253
MSV3drs35020253
GWAS Ctlgrs35020253
Merged fromRs28933080
Max Magnitude0
OMIM142250
Desc
Variant0047
Relatedalso


ClinVar
Risk rs35020253(C;C)
Alt rs35020253(C;C)
Reference rs35020253(T;T)
Significance Other
Disease HEMOGLOBIN F (CALABRIA)
Variation info
Gene HBG2
CLNDBN HEMOGLOBIN F (CALABRIA)
Reversed 1
HGVS NC_000011.9:g.5274596A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016142.2,



[PMID 10722114] A new, electrophoretically silent, fetal hemoglobin variant: Hb F-Calabria [Ggamma118(GH1)Phe-->Leu].