rs34647752

Orientation

minus

Stabilized

minus

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

Make rs34647752(A;A)

Make rs34647752(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5248439

Gene

HBG1

is a	snp
is	mentioned by
dbSNP	rs34647752
dbSNP (classic)	rs34647752
ClinGen	rs34647752
ebi	rs34647752
HLI	rs34647752
Exac	rs34647752
Gnomad	rs34647752
Varsome	rs34647752
LitVar	rs34647752
Map	rs34647752
PheGenI	rs34647752
Biobank	rs34647752
1000 genomes	rs34647752
hgdp	rs34647752
ensembl	rs34647752
geneview	rs34647752
scholar	rs34647752
google	rs34647752
pharmgkb	rs34647752
gwascentral	rs34647752
openSNP	rs34647752
23andMe	rs34647752
SNPshot	rs34647752
SNPdbe	rs34647752
MSV3d	rs34647752
GWAS Ctlg	rs34647752

Max Magnitude

0

OMIM	142200
Desc
Variant	0019
Related	also

OMIM	142250
Desc
Variant	0004
Related	also

ClinVar
Risk	rs34647752(A;A) rs34647752(C;C) rs34647752(T;T)
Alt	rs34647752(A;A) rs34647752(C;C) rs34647752(T;T)
Reference	Rs34647752(G;G)
Significance	Other
Disease	HEMOGLOBIN F (SIENA) HEMOGLOBIN F (HULL)
Variation	info
Gene	HBG1
CLNDBN	HEMOGLOBIN F (SIENA) HEMOGLOBIN F (HULL)
Reversed	1
HGVS	NC_000011.9:g.5269669C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016163.1, RCV000016164.1,

[PMID 2412617] Fetal hemoglobin variants identified in adults through restriction endonuclease gene mapping methodology.

[PMID 4710228] Further characterization of haemoglobin F Hull 121 glutamic acid leads to lysine; 136 alanine.

[PMID 6038320] Haemoglobin F Hull (gamma-121 glutamic acid--lysine), homologous with haemoglobins O Arab and O Indonesia.