rs34083951

Orientation

minus

Stabilized

minus

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

Make rs34083951(C;G)

Make rs34083951(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226613

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs34083951
dbSNP (classic)	rs34083951
ClinGen	rs34083951
ebi	rs34083951
HLI	rs34083951
Exac	rs34083951
Gnomad	rs34083951
Varsome	rs34083951
LitVar	rs34083951
Map	rs34083951
PheGenI	rs34083951
Biobank	rs34083951
1000 genomes	rs34083951
hgdp	rs34083951
ensembl	rs34083951
geneview	rs34083951
scholar	rs34083951
google	rs34083951
pharmgkb	rs34083951
gwascentral	rs34083951
openSNP	rs34083951
23andMe	rs34083951
SNPshot	rs34083951
SNPdbe	rs34083951
MSV3d	rs34083951
GWAS Ctlg	rs34083951

Max Magnitude

0

OMIM	141900
Desc
Variant	0118
Related	also

ClinVar
Risk	rs34083951(A;A) rs34083951(G;G)
Alt	rs34083951(A;A) rs34083951(G;G)
Reference	Rs34083951(C;C)
Significance	Other
Disease	Hemolytic anemia
Variation	info
Gene	HBB
CLNDBN	Hemolytic anemia
Reversed	1
HGVS	NC_000011.10:g.5226613G>Y
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016395.3,

[PMID 4639022] Hemoglobin Istanbul: substitution of glutamine for histidine in a proximal histidine (F8(92) ).

[PMID 10870887] Hb Saint Etienne or Hb Istanbul [beta92(F8)His-->Gln] found in an Argentinean family.