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rs35703285

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs35703285(G;G)
Make rs35703285(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225740
GeneHBB
is asnp
is mentioned by
dbSNPrs35703285
ebirs35703285
HLIrs35703285
Exacrs35703285
Varsomers35703285
Maprs35703285
PheGenIrs35703285
hapmaprs35703285
1000 genomesrs35703285
hgdprs35703285
ensemblrs35703285
gopubmedrs35703285
geneviewrs35703285
scholarrs35703285
googlers35703285
pharmgkbrs35703285
gwascentralrs35703285
openSNPrs35703285
23andMers35703285
23andMe allrs35703285
SNP Nexus

SNPshotrs35703285
SNPdbers35703285
MSV3drs35703285
GWAS Ctlgrs35703285
Max Magnitude0
ClinVar
Risk rs35703285(G;G)
Alt rs35703285(G;G)
Reference rs35703285(T;T)
Significance Pathogenic
Disease beta Thalassemia
Variation info
Gene HBB
CLNDBN beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5246970A>C
CLNSRC ClinVar
CLNACC RCV000029980.1,



[PMID 12709] ["Enzymology" Commission: recommendations for the measurement of the catalytic activity of aspartate aminotransferase in serum at 30degreesC (Document b stage 3)].


[PMID 15933066OA-icon.png] Patients with thalassemia in the United States.


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


[PMID 19205975] Hematological and molecular analysis of novel and rare beta-thalassemia mutations in the Indian population.


[PMID 20230396] Epidemiology of beta-thalassaemia in Western India: mapping the frequencies and mutations in sub-regions of Maharashtra and Gujarat.


[PMID 20437613] Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).


[PMID 1772786] Rare beta-thalassaemia mutations in Asian indians.