rs33944368

Orientation

plus

Stabilized

plus

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

Make rs33944368(A;C)

Make rs33944368(C;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

176976

Gene

HBA1

is a	snp
is	mentioned by
dbSNP	rs33944368
dbSNP (classic)	rs33944368
ClinGen	rs33944368
ebi	rs33944368
HLI	rs33944368
Exac	rs33944368
Gnomad	rs33944368
Varsome	rs33944368
LitVar	rs33944368
Map	rs33944368
PheGenI	rs33944368
Biobank	rs33944368
1000 genomes	rs33944368
hgdp	rs33944368
ensembl	rs33944368
geneview	rs33944368
scholar	rs33944368
google	rs33944368
pharmgkb	rs33944368
gwascentral	rs33944368
openSNP	rs33944368
23andMe	rs33944368
SNPshot	rs33944368
SNPdbe	rs33944368
MSV3d	rs33944368
GWAS Ctlg	rs33944368

Max Magnitude

0

OMIM	141800
Desc
Variant	0023
Related	also

OMIM	141800
Desc
Variant	0084
Related	also

ClinVar
Risk	rs33944368(C;C) rs33944368(G;G)
Alt	rs33944368(C;C) rs33944368(G;G)
Reference	Rs33944368(A;A)
Significance	Other
Disease	HEMOGLOBIN CORDELE HEMOGLOBIN KOKURA HEMOGLOBIN BEILINSON HEMOGLOBIN MICHIGAN-I HEMOGLOBIN MICHIGAN-II HEMOGLOBIN L (GASLINI) HEMOGLOBIN TAGAWA II HEMOGLOBIN UMI HEMOGLOBIN MUGINO HEMOGLOBIN YUKUHASHI-2
Variation	info
Gene	HBA1
CLNDBN	HEMOGLOBIN CORDELE HEMOGLOBIN KOKURA HEMOGLOBIN BEILINSON HEMOGLOBIN MICHIGAN-I HEMOGLOBIN MICHIGAN-II HEMOGLOBIN L (GASLINI) HEMOGLOBIN TAGAWA II HEMOGLOBIN UMI HEMOGLOBIN MUGINO HEMOGLOBIN YUKUHASHI-2
Reversed	0
HGVS	NC_000016.9:g.226975A>C; NC_000016.9:g.226975A>G
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017010.2, RCV000017083.2, RCV000017084.2, RCV000017085.2, RCV000017086.2, RCV000017087.2, RCV000017088.2, RCV000017089.2, RCV000017090.2, RCV000017091.2,

[PMID 7068437] HB Kokura [alpha 47 (CE 5) Asp leads to Gly]: a slightly unstable variant.

[PMID 6547117] Hb Cordele alpha(2)47 (CE5)Asp----Ala beta 2. A mildly unstable variant observed in black twins.