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rs1141387

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1141387(G;T)
Make rs1141387(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226789
GeneHBB
is asnp
is mentioned by
dbSNPrs1141387
ebirs1141387
HLIrs1141387
Exacrs1141387
Varsomers1141387
Maprs1141387
PheGenIrs1141387
hapmaprs1141387
1000 genomesrs1141387
hgdprs1141387
ensemblrs1141387
gopubmedrs1141387
geneviewrs1141387
scholarrs1141387
googlers1141387
pharmgkbrs1141387
gwascentralrs1141387
openSNPrs1141387
23andMers1141387
23andMe allrs1141387
SNP Nexus

SNPshotrs1141387
SNPdbers1141387
MSV3drs1141387
GWAS Ctlgrs1141387
Max Magnitude0
OMIM141900
Desc
Variant0222
Relatedalso
ClinVar
Risk rs1141387(C,T;C,T)
Alt rs1141387(C,T;C,T)
Reference rs1141387(G;G)
Significance Pathogenic
Disease Erythrocytosis
Variation info
Gene HBB
CLNDBN Erythrocytosis
Reversed 1
HGVS NC_000011.9:g.5248019C>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016552.5,


[PMID 19289044OA-icon.png] Modeling effects of human single nucleotide polymorphisms on protein-protein interactions. [PMID 7417488] Hemoglobin Pitie-Salpetriere beta 34 (B16) Val replaced by Phe. A new high oxygen affinity variant associated with familial erythrocytosis.


[PMID 10846826] Hemoglobin Pitie-Salpetriere [beta 34 (B16) Val-->Phe] showing erythrocytosis and mild hemolysis in a Japanese man.


[PMID 12908805] Two new hemoglobin variants with increased oxygen affinity: Hb Nantes [beta34(B16)Val-->Leu] and Hb Vexin [beta116(G18)His-->Leu].