DisGeNET - a database of gene-disease associations

Hemoglobinopathies, C0019045

Variant: rs33949869 ×

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:

rs33949869

HBB

0.700

CausalMutation

CLINVAR

Hb Osler [beta 145(HC2)Tyr-->Asp] results from posttranslational modification.

9101280

1997

dbSNP:

rs33949869

HBB

0.700

CausalMutation

CLINVAR

Hemoglobin S/hemoglobin Osler: a case with 3 beta globin chains. DNA sequence (AAT) proves that Hb Osler is beta 145 Tyr-->Asn.

8701949

1996

dbSNP:

rs33949869

HBB

0.700

CausalMutation

CLINVAR

Hemoglobin Osler: report of a new family with exercise studies before and after phlebotomy.

7158624

1982

dbSNP:

rs33949869

HBB

0.700

CausalMutation

CLINVAR

Polycythemia produced by hemoglobin Osler (beta-145 (HC2) Tyr yields Asp).

1117598

1975