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rs63750928

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAG;GAG) 0 common in complete genomics
Make rs63750928(-;-)
Make rs63750928(-;GAG)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226998
GeneHBB
is asnp
is mentioned by
dbSNPrs63750928
ebirs63750928
HLIrs63750928
Exacrs63750928
Varsomers63750928
Maprs63750928
PheGenIrs63750928
hapmaprs63750928
1000 genomesrs63750928
hgdprs63750928
ensemblrs63750928
gopubmedrs63750928
geneviewrs63750928
scholarrs63750928
googlers63750928
pharmgkbrs63750928
gwascentralrs63750928
openSNPrs63750928
23andMers63750928
23andMe allrs63750928
SNP Nexus

SNPshotrs63750928
SNPdbers63750928
MSV3drs63750928
GWAS Ctlgrs63750928
Max Magnitude0
OMIM141900
Desc
Variant0156
Relatedalso
ClinVar
Risk rs63750928(;)
Alt rs63750928(;)
Reference rs63750928(GAG;GAG)
Significance Other
Disease HEMOGLOBIN LEIDEN
Variation info
Gene HBB
CLNDBN HEMOGLOBIN LEIDEN
Reversed 1
HGVS NC_000011.9:g.5248228_5248230delCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000016452.2,


[PMID 5698750] Haemoglobin Leiden: deletion of beta-6 or 7 glutamic acid.


[PMID 602924] Hb Leiden-beta (0) thalassemia in a Chinese with severe hemolytic anemia.


[PMID 1252618] Translation of human globin mRNA: globin synthesis in cells containing Hb Leiden.


[PMID 4430724OA-icon.png] Imbalance in alpha and beta globin synthesis associated with a hemoglobinopathy.


[PMID 4748816] Some functional properties of hemoglobin Leiden.


[PMID 6874375] Hemoglobin Leiden [beta 6 or 7 (A3 or A4) Glu leads to O] in a Yugoslavian woman arisen by a new mutation.