rs34427034

Orientation

minus

Stabilized

minus

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

Make rs34427034(A;A)

Make rs34427034(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5249789

Gene

HBG1

is a	snp
is	mentioned by
dbSNP	rs34427034
dbSNP (classic)	rs34427034
ClinGen	rs34427034
ebi	rs34427034
HLI	rs34427034
Exac	rs34427034
Gnomad	rs34427034
Varsome	rs34427034
LitVar	rs34427034
Map	rs34427034
PheGenI	rs34427034
Biobank	rs34427034
1000 genomes	rs34427034
hgdp	rs34427034
ensembl	rs34427034
geneview	rs34427034
scholar	rs34427034
google	rs34427034
pharmgkb	rs34427034
gwascentral	rs34427034
openSNP	rs34427034
23andMe	rs34427034
SNPshot	rs34427034
SNPdbe	rs34427034
MSV3d	rs34427034
GWAS Ctlg	rs34427034

Max Magnitude

0

OMIM	142200
Desc
Variant	0020
Related	also

ClinVar
Risk	rs34427034(A;A)
Alt	rs34427034(A;A)
Reference	Rs34427034(G;G)
Significance	Other
Disease	HEMOGLOBIN F (TEXAS I)
Variation	info
Gene	HBG1
CLNDBN	HEMOGLOBIN F (TEXAS I)
Reversed	1
HGVS	NC_000011.9:g.5271019C>T
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016165.1,

[PMID 2453112] The variant fetal hemoglobin F Texas I is abnormally acetylated.

[PMID 5038699] Further characterisation of haemoglobin F Texas I 5 glutamic acid leads to lysine; 136 alanine.

[PMID 6019034] Haemoglobin F Texas I(alpha-2,gamma-2-5glu-lys): a variant of haemoglobin F.