rs35710727

minus

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

Make rs35710727(C;C)

Make rs35710727(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5250055

Gene

HBG1

is a	snp
is	mentioned by
dbSNP	rs35710727
dbSNP (classic)	rs35710727
ClinGen	rs35710727
ebi	rs35710727
HLI	rs35710727
Exac	rs35710727
Gnomad	rs35710727
Varsome	rs35710727
LitVar	rs35710727
Map	rs35710727
PheGenI	rs35710727
Biobank	rs35710727
1000 genomes	rs35710727
hgdp	rs35710727
ensembl	rs35710727
geneview	rs35710727
scholar	rs35710727
google	rs35710727
pharmgkb	rs35710727
gwascentral	rs35710727
openSNP	rs35710727
23andMe	rs35710727
SNPshot	rs35710727
SNPdbe	rs35710727
MSV3d	rs35710727
GWAS Ctlg	rs35710727

Max Magnitude

0

OMIM	142200
Desc
Variant	0028
Related	also

ClinVar
Risk	rs35710727(C;C)
Alt	rs35710727(C;C)
Reference	Rs35710727(T;T)
Significance	Pathogenic
Disease	Fetal hemoglobin quantitative trait locus 1 British HPFH
Variation	info
Gene	HBG1
CLNDBN	Fetal hemoglobin quantitative trait locus 1 British HPFH
Reversed	1
HGVS	NC_000011.9:g.5271285A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016174.25, RCV000016175.22,

[PMID 811241] A form of hereditary persistence of fetal haemoglobin characterized by uneven cellular distribution of haemoglobin F and the production of haemoglobins A and A2 in homozygotes.

[PMID 1373683] An A gamma globin promoter (four base-pair deletion) mutant shows linked polymorphic changes throughout the A gamma gene.

[PMID 2430647] The British form of hereditary persistence of fetal hemoglobin results from a single base mutation adjacent to an S1 hypersensitive site 5' to the A gamma globin gene.

[PMID 2458313] Hemoglobin F production in heterocellular hereditary persistence of fetal hemoglobin and its linkage to the beta globin gene complex.