DisGeNET - a database of gene-disease associations

alpha-Thalassemia, C0002312

Variant: rs41464951 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs41464951

HBA2

0.700

CausalMutation

CLINVAR

Alpha-thalassaemia.

20507641

2010

dbSNP:

rs41464951

HBA2

0.700

CausalMutation

CLINVAR

Anemia and hydrops in a fetus with homozygous hemoglobin constant spring.

17164653

2006

dbSNP:

rs41464951

HBA2

0.700

CausalMutation

CLINVAR

Hemoglobin H disease: not necessarily a benign disorder.

12393486

2003

dbSNP:

rs41464951

HBA2

0.700

CausalMutation

CLINVAR

The distribution of the Hb constant spring gene in Southeast Asian populations.

2298455

1990

dbSNP:

rs41464951

HBA2

0.700

CausalMutation

CLINVAR

Hematologic and biosynthetic studies in homozygous hemoglobin Constant Spring.

6725554

1984

dbSNP:

rs41464951

HBA2

0.700

CausalMutation

CLINVAR

Homozygous haemoglobin Constant Spring: a need for revision of concept.

7327587

1981

dbSNP:

rs41464951

HBA2

0.700

CausalMutation

CLINVAR

Haemoglobin Constant Spring--a chain termination mutant?

4944483

1971