rs35378915

minus

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

Make rs35378915(A;A)

Make rs35378915(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5249974

Gene

HBG1

is a	snp
is	mentioned by
dbSNP	rs35378915
dbSNP (classic)	rs35378915
ClinGen	rs35378915
ebi	rs35378915
HLI	rs35378915
Exac	rs35378915
Gnomad	rs35378915
Varsome	rs35378915
LitVar	rs35378915
Map	rs35378915
PheGenI	rs35378915
Biobank	rs35378915
1000 genomes	rs35378915
hgdp	rs35378915
ensembl	rs35378915
geneview	rs35378915
scholar	rs35378915
google	rs35378915
pharmgkb	rs35378915
gwascentral	rs35378915
openSNP	rs35378915
23andMe	rs35378915
SNPshot	rs35378915
SNPdbe	rs35378915
MSV3d	rs35378915
GWAS Ctlg	rs35378915

Max Magnitude

0

OMIM	142200
Desc
Variant	0026
Related	also

ClinVar
Risk	rs35378915(A;A)
Alt	rs35378915(A;A)
Reference	Rs35378915(G;G)
Significance	Pathogenic
Disease	Fetal hemoglobin quantitative trait locus 1 Sardinian HPFH Greek HPFH
Variation	info
Gene	HBG1
CLNDBN	Fetal hemoglobin quantitative trait locus 1 Sardinian HPFH Greek HPFH
Reversed	1
HGVS	NC_000011.9:g.5271204C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016171.27, RCV000016172.27, RCV000016173.27,

[PMID 1201197] Globin chain synthesis in the greek type (A gamma) of hereditary persisitence of fetal haemoglobin.

[PMID 2452784] A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia.

[PMID 2469505] The homozygous state of G to A--117A gamma hereditary persistence of fetal hemoglobin.

[PMID 2578619] G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin.

[PMID 2578620] A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin.

[PMID 3181130 ] The -117 mutation in Greek HPFH affects the binding of three nuclear factors to the CCAAT region of the gamma-globin gene.