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rs63749797

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs63749797(G;T)
Make rs63749797(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5248394
GeneHBG1
is asnp
is mentioned by
dbSNPrs63749797
ebirs63749797
HLIrs63749797
Exacrs63749797
Varsomers63749797
Maprs63749797
PheGenIrs63749797
hapmaprs63749797
1000 genomesrs63749797
hgdprs63749797
ensemblrs63749797
gopubmedrs63749797
geneviewrs63749797
scholarrs63749797
googlers63749797
pharmgkbrs63749797
gwascentralrs63749797
openSNPrs63749797
23andMers63749797
23andMe allrs63749797
SNP Nexus

SNPshotrs63749797
SNPdbers63749797
MSV3drs63749797
GWAS Ctlgrs63749797
Max Magnitude0
OMIM142200
Desc
Variant0037
Relatedalso


ClinVar
Risk rs63749797(T;T)
Alt rs63749797(T;T)
Reference rs63749797(G;G)
Significance Other
Disease HEMOGLOBIN F (PORTO TORRES)
Variation info
Gene HBG1
CLNDBN HEMOGLOBIN F (PORTO TORRES)
Reversed 1
HGVS NC_000011.9:g.5269624C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016185.2,



[PMID 15666429] Hb F-Porto Torres [Agamma75(E19)Ile-->Thr, 136(H14)Ala-->Ser]: a novel variant of the Agamma chain having two substitutions, one being that of Hb F-Sardinia.