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

rs104894225

From SNPedia

Orientationminus
Stabilizedminus
Make rs104894225(C;C)
Make rs104894225(C;T)
Make rs104894225(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5254380
GeneHBG2
is asnp
is mentioned by
dbSNPrs104894225
dbSNP (old)rs104894225
ClinGenrs104894225
ebirs104894225
HLIrs104894225
Exacrs104894225
Gnomadrs104894225
Varsomers104894225
Maprs104894225
PheGenIrs104894225
Biobankrs104894225
1000 genomesrs104894225
hgdprs104894225
ensemblrs104894225
gopubmedrs104894225
geneviewrs104894225
scholarrs104894225
googlers104894225
pharmgkbrs104894225
gwascentralrs104894225
openSNPrs104894225
23andMers104894225
23andMe allrs104894225
SNP Nexus

SNPshotrs104894225
SNPdbers104894225
MSV3drs104894225
GWAS Ctlgrs104894225
Max Magnitude
OMIM142250
Desc
Variant0039
Relatedalso
ClinVar
Risk rs104894225(C;C)
Alt rs104894225(C;C)
Reference rs104894225(T;T)
Significance Other
Disease HEMOGLOBIN F (WAYNESBORO) HEMOGLOBIN F (LESVOS)
Variation info
Gene HBG2
CLNDBN HEMOGLOBIN F (WAYNESBORO) HEMOGLOBIN F (LESVOS)
Reversed 1
HGVS NC_000011.9:g.5275610A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016134.1, RCV000030902.1,


[PMID 7852085] Hb F-Sassari: a novel G gamma variant with a threonine residue at position gamma 75, characterized by mass spectrometric techniques.


[PMID 8566966] HbF-Lesvos: an HbF variant due to a novel G gamma mutation (:G gamma 75 ATA-->ACA) detected in a Greek family.