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rs56205611

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
(G;G) 0 common in complete genomics
Make rs56205611(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5248393
GeneHBG1
is asnp
is mentioned by
dbSNPrs56205611
ebirs56205611
HLIrs56205611
Exacrs56205611
Varsomers56205611
Maprs56205611
PheGenIrs56205611
hapmaprs56205611
1000 genomesrs56205611
hgdprs56205611
ensemblrs56205611
gopubmedrs56205611
geneviewrs56205611
scholarrs56205611
googlers56205611
pharmgkbrs56205611
gwascentralrs56205611
openSNPrs56205611
23andMers56205611
23andMe allrs56205611
SNP Nexus

SNPshotrs56205611
SNPdbers56205611
MSV3drs56205611
GWAS Ctlgrs56205611
GMAF0.004132
Max Magnitude0
OMIM142200
Desc
Variant0032
Relatedalso
ClinVar
Risk rs56205611(G;G)
Alt rs56205611(G;G)
Reference rs56205611(C;C)
Significance Other
Disease HEMOGLOBIN F (CHARLOTTE)
Variation info
Gene HBG1
CLNDBN HEMOGLOBIN F (CHARLOTTE)
Reversed 1
HGVS NC_000011.9:g.5269623G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016180.1,


[PMID 1714434] Hb F-Charlotte, an A gamma variant with a threonine residue in position gamma 75 and a glycine residue in position gamma 136.