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rs35617911

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs35617911(C;G)
Make rs35617911(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5254983
GeneHBG2
is asnp
is mentioned by
dbSNPrs35617911
dbSNP (classic)rs35617911
ClinGenrs35617911
ebirs35617911
HLIrs35617911
Exacrs35617911
Gnomadrs35617911
Varsomers35617911
LitVarrs35617911
Maprs35617911
PheGenIrs35617911
Biobankrs35617911
1000 genomesrs35617911
hgdprs35617911
ensemblrs35617911
geneviewrs35617911
scholarrs35617911
googlers35617911
pharmgkbrs35617911
gwascentralrs35617911
openSNPrs35617911
23andMers35617911
SNPshotrs35617911
SNPdbers35617911
MSV3drs35617911
GWAS Ctlgrs35617911
Max Magnitude0
OMIM142250
Desc
Variant0026
Relatedalso


ClinVar
Risk rs35617911(G;G)
Alt rs35617911(G;G)
Reference Rs35617911(C;C)
Significance Pathogenic
Disease Fetal hemoglobin quantitative trait locus 1
Variation info
Gene HBG2
CLNDBN Fetal hemoglobin quantitative trait locus 1
Reversed 1
HGVS NC_000011.9:g.5276213G>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016122.25,



[PMID 1200028OA-icon.png] A G gamma type of the hereditary persistence of fetal hemoglobin with beta chain production in cis.


[PMID 6205403OA-icon.png] G gamma beta+ hereditary persistence of fetal hemoglobin: cosmid cloning and identification of a specific mutation 5' to the G gamma gene.