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rs63750968

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs63750968(-;-)
Make rs63750968(-;GGCCTG)
Make rs63750968(GGCCTG;GGCCTG)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226664
GeneHBB
is asnp
is mentioned by
dbSNPrs63750968
ebirs63750968
HLIrs63750968
Exacrs63750968
Varsomers63750968
Maprs63750968
PheGenIrs63750968
hapmaprs63750968
1000 genomesrs63750968
hgdprs63750968
ensemblrs63750968
gopubmedrs63750968
geneviewrs63750968
scholarrs63750968
googlers63750968
pharmgkbrs63750968
gwascentralrs63750968
openSNPrs63750968
23andMers63750968
23andMe allrs63750968
SNP Nexus

SNPshotrs63750968
SNPdbers63750968
MSV3drs63750968
GWAS Ctlgrs63750968
Max Magnitude0
OMIM141900
Desc
Variant0267
Relatedalso
ClinVar
Risk rs63750968(GGCCTGG,G;GGCCTGG,G)
Alt rs63750968(GGCCTGG,G;GGCCTGG,G)
Reference rs63750968(GCCTGG;GCCTGG)
Significance Other
Disease HEMOGLOBIN ST. ANTOINE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN ST. ANTOINE
Reversed 1
HGVS NC_000011.9:g.5247894_5247899delCAGGCC
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016610.2,


[PMID 4699574] Two new hemoglobin variants with deletion. Hemoglobin tours: Thr 8 7 (F 3 ) deleted and hemoglobin St Antoine: Gly-Leu 74-75 (E 18-19 deleted. Consequences for oxygen affinity and protein stability.