Have questions? Visit https://www.reddit.com/r/SNPedia

rs34501593

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34501593(A;A)
Make rs34501593(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5254707
GeneHBG2
is asnp
is mentioned by
dbSNPrs34501593
ebirs34501593
HLIrs34501593
Exacrs34501593
Varsomers34501593
Maprs34501593
PheGenIrs34501593
hapmaprs34501593
1000 genomesrs34501593
hgdprs34501593
ensemblrs34501593
gopubmedrs34501593
geneviewrs34501593
scholarrs34501593
googlers34501593
pharmgkbrs34501593
gwascentralrs34501593
openSNPrs34501593
23andMers34501593
23andMe allrs34501593
SNP Nexus

SNPshotrs34501593
SNPdbers34501593
MSV3drs34501593
GWAS Ctlgrs34501593
Max Magnitude0
OMIM142250
Desc
Variant0002
Relatedalso
ClinVar
Risk rs34501593(A;A)
Alt rs34501593(A;A)
Reference rs34501593(G;G)
Significance Other
Disease HEMOGLOBIN F (AUCKLAND)
Variation info
Gene HBG2
CLNDBN HEMOGLOBIN F (AUCKLAND)
Reversed 1
HGVS NC_000011.9:g.5275937C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016098.1,



[PMID 2417990] Hb F-Auckland [alpha 2G gamma 2(7)(A4)Asp----Asn] observed in a Caucasian newborn from Alabama.


[PMID 4429671] Haemoglobin F auckland G gamma 7 Asp leads to Asn: further evidence for multiple genes for the gamma chain.