rs33974325

Orientation

minus

Stabilized

minus

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

Make rs33974325(A;C)

Make rs33974325(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226614

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33974325
dbSNP (classic)	rs33974325
ClinGen	rs33974325
ebi	rs33974325
HLI	rs33974325
Exac	rs33974325
Gnomad	rs33974325
Varsome	rs33974325
LitVar	rs33974325
Map	rs33974325
PheGenI	rs33974325
Biobank	rs33974325
1000 genomes	rs33974325
hgdp	rs33974325
ensembl	rs33974325
geneview	rs33974325
scholar	rs33974325
google	rs33974325
pharmgkb	rs33974325
gwascentral	rs33974325
openSNP	rs33974325
23andMe	rs33974325
SNPshot	rs33974325
SNPdbe	rs33974325
MSV3d	rs33974325
GWAS Ctlg	rs33974325

Max Magnitude

0

OMIM	141900
Desc
Variant	0186
Related	also

OMIM	141900
Desc
Variant	0197
Related	also

OMIM	141900
Desc
Variant	0427
Related	also

ClinVar
Risk	rs33974325(C;C) rs33974325(G;G)
Alt	rs33974325(C;C) rs33974325(G;G)
Reference	Rs33974325(A;A)
Significance	Other
Disease	HEMOGLOBIN MOZHAISK HEMOGLOBIN NEWCASTLE HEMOGLOBIN DUINO
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN MOZHAISK HEMOGLOBIN NEWCASTLE HEMOGLOBIN DUINO
Reversed	1
HGVS	NC_000011.9:g.5247844T>C; NC_000011.9:g.5247844T>G
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016502.3, RCV000016518.2, RCV000016780.2,

[PMID 2737917] Two rare unstable beta chain variants, Hb Mozhaisk or alpha 2 beta 292(F8)His----Arg and Hb Djelfa or alpha 2 beta 298(Fg5)Val----Ala, each being observed for the second time.

[PMID 7096107] A new abnormal hemoglobin: Hb Mozhaisk beta 92(F8)His leads to Arg.

[PMID 1227988] Hb Newcastle: beta92 (F8) His replaced by Pro.