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rs63750021

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0
Make rs63750021(A;A)
Make rs63750021(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5253357
GeneHBG2
is asnp
is mentioned by
dbSNPrs63750021
ebirs63750021
HLIrs63750021
Exacrs63750021
Varsomers63750021
Maprs63750021
PheGenIrs63750021
hapmaprs63750021
1000 genomesrs63750021
hgdprs63750021
ensemblrs63750021
gopubmedrs63750021
geneviewrs63750021
scholarrs63750021
googlers63750021
pharmgkbrs63750021
gwascentralrs63750021
openSNPrs63750021
23andMers63750021
23andMe allrs63750021
SNP Nexus

SNPshotrs63750021
SNPdbers63750021
MSV3drs63750021
GWAS Ctlgrs63750021
Max Magnitude0
OMIM142250
Desc
Variant0004
Relatedalso
ClinVar
Risk rs63750021(A;A)
Alt rs63750021(A;A)
Reference rs63750021(G;G)
Significance Other
Disease HEMOGLOBIN F (CARLTON)
Variation info
Gene HBG2
CLNDBN HEMOGLOBIN F (CARLTON)
Reversed 1
HGVS NC_000011.9:g.5274587C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016100.1,


[PMID 836882] Haemoglobin F Melbourne Ggamma 16 Gly leads to Arg and haemoglobin F carlton Ggamma 121 Glu leads to Lys. Further evidence for varied activity of gamma-chain genes.