rs34703513

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in complete genomics
(CC;CC)	0	common in clinvar

Make rs34703513(A;A)

Make rs34703513(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226776

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs34703513
dbSNP (classic)	rs34703513
ClinGen	rs34703513
ebi	rs34703513
HLI	rs34703513
Exac	rs34703513
Gnomad	rs34703513
Varsome	rs34703513
LitVar	rs34703513
Map	rs34703513
PheGenI	rs34703513
Biobank	rs34703513
1000 genomes	rs34703513
hgdp	rs34703513
ensembl	rs34703513
geneview	rs34703513
scholar	rs34703513
google	rs34703513
pharmgkb	rs34703513
gwascentral	rs34703513
openSNP	rs34703513
23andMe	rs34703513
SNPshot	rs34703513
SNPdbe	rs34703513
MSV3d	rs34703513
GWAS Ctlg	rs34703513

Merged from

Rs111033585

Max Magnitude

0

OMIM	141900
Desc
Variant	0461
Related	also

ClinVar
Risk	rs34703513(A;A) rs34703513(T;T)
Alt	rs34703513(A;A) rs34703513(T;T)
Reference	Rs34703513(C;C)
Significance	Other
Disease	HEMOGLOBIN LA CORUNA HEMOGLOBIN HINWIL
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN LA CORUNA HEMOGLOBIN HINWIL
Reversed	1
HGVS	NC_000011.9:g.5248006G>A; NC_000011.9:g.5248006G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016889.2, RCV000016815.2,

[PMID 8745430] HB Hinwil or beta 38(C4)Thr-->Asn: a new beta chain variant detected in a Swiss family.

[PMID 16840229] Hb La Coruna [beta38(C4)Thr-->Ile]: a new hemoglobin variant leading to familial polycythemia.