DisGeNET - a database of gene-disease associations

Endocardial Cushion Defects, C0014116

Variant: rs1225976306 ×

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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1225976306

rs1225976306

BRAF ; LOC105375536

8

0.807

0.160

7

140924673

missense variant

C/T

snv

9.3E-06

0.010

1.000

2015

2015