Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs334
rs334
HBB
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Non-transfusion-dependent thalassemias. 23729725

2013
dbSNP: rs334
rs334
HBB
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Beta-thalassemia. 20492708

2010
dbSNP: rs334
rs334
HBB
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Sickle-cell disease. 21131035

2010
dbSNP: rs334
rs334
HBB
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Multiplex ligation-dependent probe amplification identification of 17 different beta-globin gene deletions (including four novel mutations) in the UK population. 19958185

2009
dbSNP: rs334
rs334
HBB
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Inherited haemoglobin disorders: an increasing global health problem. 11545326

2001
dbSNP: rs334
rs334
HBB
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Imaging features of thalassemia. 10602954

1999
dbSNP: rs334
rs334
HBB
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Human globin gene analysis for a patient with beta-o/delta beta-thalassemia. 49057

1975