rs34430836

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs34430836(C;G)

Make rs34430836(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5234080

Gene

HBD

is a	snp
is	mentioned by
dbSNP	rs34430836
dbSNP (classic)	rs34430836
ClinGen	rs34430836
ebi	rs34430836
HLI	rs34430836
Exac	rs34430836
Gnomad	rs34430836
Varsome	rs34430836
LitVar	rs34430836
Map	rs34430836
PheGenI	rs34430836
Biobank	rs34430836
1000 genomes	rs34430836
hgdp	rs34430836
ensembl	rs34430836
geneview	rs34430836
scholar	rs34430836
google	rs34430836
pharmgkb	rs34430836
gwascentral	rs34430836
openSNP	rs34430836
23andMe	rs34430836
SNPshot	rs34430836
SNPdbe	rs34430836
MSV3d	rs34430836
GWAS Ctlg	rs34430836

Max Magnitude

0

OMIM	142000
Desc
Variant	0033
Related	also

ClinVar
Risk	rs34430836(G;G)
Alt	rs34430836(G;G)
Reference	Rs34430836(C;C)
Significance	Other
Disease	delta Thalassemia HEMOGLOBIN A(2) GROVETOWN
Variation	info
Gene	HBD
CLNDBN	delta Thalassemia HEMOGLOBIN A(2) GROVETOWN
Reversed	1
HGVS	NC_000011.9:g.5255310G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016226.22, RCV000016227.1,

[PMID 8330984] Hb A2-Grovetown or alpha 2 delta (2)75(E19)Leu-->Val.