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rs63751148

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0
Make rs63751148(A;A)
Make rs63751148(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5254366
GeneHBG2
is asnp
is mentioned by
dbSNPrs63751148
ebirs63751148
HLIrs63751148
Exacrs63751148
Varsomers63751148
Maprs63751148
PheGenIrs63751148
hapmaprs63751148
1000 genomesrs63751148
hgdprs63751148
ensemblrs63751148
gopubmedrs63751148
geneviewrs63751148
scholarrs63751148
googlers63751148
pharmgkbrs63751148
gwascentralrs63751148
openSNPrs63751148
23andMers63751148
23andMe allrs63751148
SNP Nexus

SNPshotrs63751148
SNPdbers63751148
MSV3drs63751148
GWAS Ctlgrs63751148
Max Magnitude0
OMIM142250
Desc
Variant0015
Relatedalso
ClinVar
Risk rs63751148(A,C,T;A,C,T)
Alt rs63751148(A,C,T;A,C,T)
Reference rs63751148(G;G)
Significance Other
Disease HEMOGLOBIN F (MARIETTA)
Variation info
Gene HBG2
CLNDBN HEMOGLOBIN F (MARIETTA)
Reversed 1
HGVS NC_000011.9:g.5275596C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016111.1,


[PMID 6183237] Hb F-Marietta or G gamma I 80[EF4] Asp replaced by Asn, observed in a Caucasian baby.


[PMID 19958193] Two abnormal fetal hemoglobins found in the Sardinian population: the new Hb F-Osilo [(A)gamma119(GH2)Gly-->Ser, GGC > AGC] and Hb F-Paulinia [(G)gamma80(EF4)Asp-->Tyr, GAT > TAT] already described in the Brazilian population.