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rs63750467

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs63750467(A;T)
Make rs63750467(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position177362
GeneHBA1
is asnp
is mentioned by
dbSNPrs63750467
dbSNP (classic)rs63750467
ClinGenrs63750467
ebirs63750467
HLIrs63750467
Exacrs63750467
Gnomadrs63750467
Varsomers63750467
LitVarrs63750467
Maprs63750467
PheGenIrs63750467
Biobankrs63750467
1000 genomesrs63750467
hgdprs63750467
ensemblrs63750467
geneviewrs63750467
scholarrs63750467
googlers63750467
pharmgkbrs63750467
gwascentralrs63750467
openSNPrs63750467
23andMers63750467
SNPshotrs63750467
SNPdbers63750467
MSV3drs63750467
GWAS Ctlgrs63750467
Max Magnitude0
OMIM141800
Desc
Variant0163
Relatedalso
ClinVar
Risk rs63750467(C;C) rs63750467(G;G) rs63750467(T;T)
Alt rs63750467(C;C) rs63750467(G;G) rs63750467(T;T)
Reference Rs63750467(A;A)
Significance Other
Disease HEMOGLOBIN FUKUTOMI
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN FUKUTOMI
Reversed 0
HGVS NC_000016.9:g.227361A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017184.2,


[PMID 2079432] Hb Fukutomi [alpha 126(H9)Asp----Val]: a new hemoglobin variant with high oxygen affinity.