DisGeNET - a database of gene-disease associations

ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, C4225317

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:

rs794729674

rs794729674

POLR1A

1

1.000

2

86070107

missense variant

C/G

snv

0.800

dbSNP:

rs1377622831

rs1377622831

POLR1A

1

1.000

2

86048991

stop gained

G/A

snv

7.0E-06

0.700

dbSNP:

rs875989814

rs875989814

POLR1A

1

1.000

2

86040483

frameshift variant

G/-

delins

0.700