rs1141387

minus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs1141387(G;T)

Make rs1141387(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226789

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs1141387
dbSNP (classic)	rs1141387
ClinGen	rs1141387
ebi	rs1141387
HLI	rs1141387
Exac	rs1141387
Gnomad	rs1141387
Varsome	rs1141387
LitVar	rs1141387
Map	rs1141387
PheGenI	rs1141387
Biobank	rs1141387
1000 genomes	rs1141387
hgdp	rs1141387
ensembl	rs1141387
geneview	rs1141387
scholar	rs1141387
google	rs1141387
pharmgkb	rs1141387
gwascentral	rs1141387
openSNP	rs1141387
23andMe	rs1141387
SNPshot	rs1141387
SNPdbe	rs1141387
MSV3d	rs1141387
GWAS Ctlg	rs1141387

Max Magnitude

0

OMIM	141900
Desc
Variant	0222
Related	also

ClinVar
Risk	rs1141387(C;C) rs1141387(T;T)
Alt	rs1141387(C;C) rs1141387(T;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 UniProtKB (protein)
CLNACC	RCV000016552.5,

[PMID 19289044 ] 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].