rs34948328

Orientation

minus

Stabilized

minus

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

Make rs34948328(A;A)

Make rs34948328(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5227000

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs34948328
dbSNP (classic)	rs34948328
ClinGen	rs34948328
ebi	rs34948328
HLI	rs34948328
Exac	rs34948328
Gnomad	rs34948328
Varsome	rs34948328
LitVar	rs34948328
Map	rs34948328
PheGenI	rs34948328
Biobank	rs34948328
1000 genomes	rs34948328
hgdp	rs34948328
ensembl	rs34948328
geneview	rs34948328
scholar	rs34948328
google	rs34948328
pharmgkb	rs34948328
gwascentral	rs34948328
openSNP	rs34948328
23andMe	rs34948328
SNPshot	rs34948328
SNPdbe	rs34948328
MSV3d	rs34948328
GWAS Ctlg	rs34948328

Merged from

Rs121909819

Max Magnitude

0

OMIM	141900
Desc
Variant	0263
Related	also

ClinVar
Risk	rs34948328(A;A) rs34948328(C;C)
Alt	rs34948328(A;A) rs34948328(C;C)
Reference	Rs34948328(G;G)
Significance	Pathogenic
Disease	not specified
Variation	info
Gene	HBB
CLNDBN	not specified
Reversed	1
HGVS	NC_000011.9:g.5248230C>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016602.4,

[PMID 5077741] Haemoglobin Siriraj, -7 ( A4) Glu leads to Lys, in a Chinese subject in Taiwan.