rs34305195

minus

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

Make rs34305195(A;C)

Make rs34305195(C;C)

Reference

GRCh38 38.1/142

Chromosome

11

Position

5227071

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs34305195
dbSNP (classic)	rs34305195
ClinGen	rs34305195
ebi	rs34305195
HLI	rs34305195
Exac	rs34305195
Gnomad	rs34305195
Varsome	rs34305195
LitVar	rs34305195
Map	rs34305195
PheGenI	rs34305195
Biobank	rs34305195
1000 genomes	rs34305195
hgdp	rs34305195
ensembl	rs34305195
geneview	rs34305195
scholar	rs34305195
google	rs34305195
pharmgkb	rs34305195
gwascentral	rs34305195
openSNP	rs34305195
23andMe	rs34305195
SNPshot	rs34305195
SNPdbe	rs34305195
MSV3d	rs34305195
GWAS Ctlg	rs34305195

Max Magnitude

0

OMIM	141900
Desc
Variant	0387
Related	also

ClinVar
Risk	rs34305195(C;C)
Alt	rs34305195(C;C)
Reference	Rs34305195(A;A)
Significance	Other
Disease	Beta Thalassemia
Variation	info
Gene	HBB
CLNDBN	beta Thalassemia
Reversed	1
HGVS	NC_000011.9:g.5248301T>G
CLNSRC	ClinVar GTR
CLNACC	RCV000029957.1,

[PMID 914072] [Etiology of protodiastolic murmur in patients with aortic prosthesis].

[PMID 3683554] Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA.

[PMID 12709369] Rapid detection of beta-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis.

[PMID 18294253] Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity.

[PMID 19254853] Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population.

[PMID 21119755 ] Profiling beta-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes.