rs35672478

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;GTG)	3	Alpha-thalassemia allele carrier
(GTG;GTG)	0	common in clinvar

Make rs35672478(-;-)

Reference

GRCh38 38.1/141

Chromosome

16

Position

177020

Gene

HBA1

is a	snp
is	mentioned by
dbSNP	rs35672478
dbSNP (classic)	rs35672478
ClinGen	rs35672478
ebi	rs35672478
HLI	rs35672478
Exac	rs35672478
Gnomad	rs35672478
Varsome	rs35672478
LitVar	rs35672478
Map	rs35672478
PheGenI	rs35672478
Biobank	rs35672478
1000 genomes	rs35672478
hgdp	rs35672478
ensembl	rs35672478
geneview	rs35672478
scholar	rs35672478
google	rs35672478
pharmgkb	rs35672478
gwascentral	rs35672478
openSNP	rs35672478
23andMe	rs35672478
SNPshot	rs35672478
SNPdbe	rs35672478
MSV3d	rs35672478
GWAS Ctlg	rs35672478

Max Magnitude

3

OMIM	141800
Desc
Variant	0202
Related	also

ClinVar
Risk	rs35672478(-;-)
Alt	rs35672478(-;-)
Reference	rs35672478(GGT;GGT)
Significance	Other
Disease	HEMOGLOBIN AGHIA SOPHIA Hemoglobin H disease
Variation	info
Gene	HBA1
CLNDBN	HEMOGLOBIN AGHIA SOPHIA Hemoglobin H disease, nondeletional
Reversed	0
HGVS	NC_000016.9:g.227019_227021delGTG
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000017221.2, RCV000022601.5,

[PMID 10569720] Hb Aghia Sophia [alpha62(E11)Val-->0 (alpha1)], an "in-frame" deletion causing alpha-thalassemia.