rs33969953

Orientation

plus

Stabilized

plus

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

Make rs33969953(C;C)

Make rs33969953(C;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

177063

Gene

HBA1

is a	snp
is	mentioned by
dbSNP	rs33969953
dbSNP (classic)	rs33969953
ClinGen	rs33969953
ebi	rs33969953
HLI	rs33969953
Exac	rs33969953
Gnomad	rs33969953
Varsome	rs33969953
LitVar	rs33969953
Map	rs33969953
PheGenI	rs33969953
Biobank	rs33969953
1000 genomes	rs33969953
hgdp	rs33969953
ensembl	rs33969953
geneview	rs33969953
scholar	rs33969953
google	rs33969953
pharmgkb	rs33969953
gwascentral	rs33969953
openSNP	rs33969953
23andMe	rs33969953
SNPshot	rs33969953
SNPdbe	rs33969953
MSV3d	rs33969953
GWAS Ctlg	rs33969953

Max Magnitude

0

OMIM	141800
Desc
Variant	0008
Related	also

OMIM	141800
Desc
Variant	0106
Related	also

ClinVar
Risk	rs33969953(A;A) rs33969953(C;C) rs33969953(G;G)
Alt	rs33969953(A;A) rs33969953(C;C) rs33969953(G;G)
Reference	Rs33969953(T;T)
Significance	Other
Disease	HEMOGLOBIN NOKO HEMOGLOBIN AZTEC
Variation	info
Gene	HBA1
CLNDBN	HEMOGLOBIN NOKO HEMOGLOBIN AZTEC
Reversed	0
HGVS	NC_000016.9:g.227062T>A; NC_000016.9:g.227062T>C
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017120.2, RCV000016994.2,

[PMID 7275668] Hemoglobinopathies in Japan.

[PMID 3935608] Hb Aztec or alpha 2 76 (EF5) Met----Thr beta 2 detection of a silent mutant by high performance liquid chromatography.

[PMID 11482884] Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry.