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rs34878913

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs34878913(C;C)
Make rs34878913(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5254482
GeneHBG2
is asnp
is mentioned by
dbSNPrs34878913
ebirs34878913
HLIrs34878913
Exacrs34878913
Varsomers34878913
Maprs34878913
PheGenIrs34878913
hapmaprs34878913
1000 genomesrs34878913
hgdprs34878913
ensemblrs34878913
gopubmedrs34878913
geneviewrs34878913
scholarrs34878913
googlers34878913
pharmgkbrs34878913
gwascentralrs34878913
openSNPrs34878913
23andMers34878913
23andMe allrs34878913
SNP Nexus

SNPshotrs34878913
SNPdbers34878913
MSV3drs34878913
GWAS Ctlgrs34878913
Max Magnitude0
OMIM142250
Desc
Variant0041
Relatedalso
ClinVar
Risk rs34878913(C;C)
Alt rs34878913(C;C)
Reference rs34878913(T;T)
Significance Pathogenic
Disease Cyanosis
Variation info
Gene HBG2
CLNDBN Cyanosis, transient neonatal
Reversed 1
HGVS NC_000011.9:g.5275712A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016136.25,



[PMID 7741137] Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis.