rs34218295

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(GG;GG)	0	common in clinvar

Make rs34218295(-;-)

Make rs34218295(-;GTG)

Make rs34218295(GTG;GTG)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5232994

Gene

HBD

is a	snp
is	mentioned by
dbSNP	rs34218295
dbSNP (classic)	rs34218295
ClinGen	rs34218295
ebi	rs34218295
HLI	rs34218295
Exac	rs34218295
Gnomad	rs34218295
Varsome	rs34218295
LitVar	rs34218295
Map	rs34218295
PheGenI	rs34218295
Biobank	rs34218295
1000 genomes	rs34218295
hgdp	rs34218295
ensembl	rs34218295
geneview	rs34218295
scholar	rs34218295
google	rs34218295
pharmgkb	rs34218295
gwascentral	rs34218295
openSNP	rs34218295
23andMe	rs34218295
SNPshot	rs34218295
SNPdbe	rs34218295
MSV3d	rs34218295
GWAS Ctlg	rs34218295

Max Magnitude

0

OMIM	141900
Desc
Variant	0157
Related	also

ClinVar
Risk	rs34218295(GTGG;GTGG) rs34218295(G;G)
Alt	rs34218295(GTGG;GTGG) rs34218295(G;G)
Reference	rs34218295(TGG;TGG)
Significance	Other
Disease	HEMOGLOBIN LINCOLN PARK Hbb/hbd anti-lepore
Variation	info
Gene	HBD
CLNDBN	HEMOGLOBIN LINCOLN PARK Hbb/hbd anti-lepore
Reversed	1
HGVS	NC_000011.9:g.5254224_5254226delCAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016453.1, RCV000016454.21,

[PMID 274735] Hemoglobin Lincoln Park: a betadelta fusion (anti-Lepore) variant with an amino acid deletion in the delta chain-derived segment.

[PMID 753103] Unbalanced globin chain synthesis by Hb Lincoln Park (anti-Lepore) reticulocytes.