DisGeNET - a database of gene-disease associations

Fetal hemoglobin determination, C0200695

Variant: rs9494145 ×

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:

rs9494145

0.800

GeneticVariation

GWASCAT

Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania.

25372704

2014

dbSNP:

rs9494145

0.800

GeneticVariation

GWASDB

Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans.

22936743

2012