DisGeNET - a database of gene-disease associations

Congenital anomaly of gastrointestinal tract, C0012241

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:

rs1445567359

rs1445567359

RFX6

2

1.000

0.160

6

116919268

missense variant

G/A

snv

8.0E-06

0.700

dbSNP:

rs1562146029

rs1562146029

RFX6

2

1.000

0.160

6

116920441

frameshift variant

TCTA/-

delins

0.700