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rs34474104

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34474104(C;T)
Make rs34474104(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5254417
GeneHBG2
is asnp
is mentioned by
dbSNPrs34474104
ebirs34474104
HLIrs34474104
Exacrs34474104
Varsomers34474104
Maprs34474104
PheGenIrs34474104
hapmaprs34474104
1000 genomesrs34474104
hgdprs34474104
ensemblrs34474104
gopubmedrs34474104
geneviewrs34474104
scholarrs34474104
googlers34474104
pharmgkbrs34474104
gwascentralrs34474104
openSNPrs34474104
23andMers34474104
23andMe allrs34474104
SNP Nexus

SNPshotrs34474104
SNPdbers34474104
MSV3drs34474104
GWAS Ctlgrs34474104
Merged fromRs104894224
Max Magnitude0
OMIM142250
Desc
Variant0025
Relatedalso


ClinVar
Risk rs34474104(T;T)
Alt rs34474104(T;T)
Reference rs34474104(C;C)
Significance Pathogenic
Disease Cyanosis
Variation info
Gene HBG2
CLNDBN Cyanosis, transient neonatal
Reversed 1
HGVS NC_000011.9:g.5275647G>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016121.25,



[PMID 2483933] Hb F-M-Osaka or alpha 2G gamma 2(63)(E7)His----Tyr in a Caucasian male infant.


[PMID 8811323] A new case of Hb F-M-Osaka [G gamma 63(E7)His-->Tyr] showed only benign neonatal cyanosis.


[PMID 12603090] Hb F-M-Osaka [Ggamma63(E7)His --> tyr] in a newborn from southwest France.