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rs34933751

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34933751(C;G)
Make rs34933751(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225715
GeneHBB
is asnp
is mentioned by
dbSNPrs34933751
ebirs34933751
HLIrs34933751
Exacrs34933751
Varsomers34933751
Maprs34933751
PheGenIrs34933751
hapmaprs34933751
1000 genomesrs34933751
hgdprs34933751
ensemblrs34933751
gopubmedrs34933751
geneviewrs34933751
scholarrs34933751
googlers34933751
pharmgkbrs34933751
gwascentralrs34933751
openSNPrs34933751
23andMers34933751
23andMe allrs34933751
SNP Nexus

SNPshotrs34933751
SNPdbers34933751
MSV3drs34933751
GWAS Ctlgrs34933751
Max Magnitude0
OMIM141900
Desc
Variant0226
Relatedalso
ClinVar
Risk rs34933751(A,G,T;A,G,T)
Alt rs34933751(A,G,T;A,G,T)
Reference rs34933751(C;C)
Significance Other
Disease HEMOGLOBIN PRESBYTERIAN
Variation info
Gene HBB
CLNDBN HEMOGLOBIN PRESBYTERIAN
Reversed 1
HGVS NC_000011.10:g.5225715G>Y
CLNSRC OMIM Allelic Variant
CLNACC RCV000016558.3,


[PMID 500379] Hemoglobin Presbyterian [beta 108 (G10) Asn replaced by Lys] in a German family.


[PMID 668922] Hemoglobin Presbyterian: beta108 (G10) asparagine leads to lysine, A hemoglobin variant with low oxygen affinity.


[PMID 3101357] Haemoglobin Presbyterian [beta 108 (G 10) Asn----Lys] in a Spanish family.


[PMID 6309649] DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian beta-globin gene.