DisGeNET - a database of gene-disease associations

PEELING SKIN SYNDROME, C1849193

Variant: rs149660944 ×

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:

rs149660944

rs149660944

CHST8

5

0.851

0.200

19

33772017

missense variant

C/A;T

snv

6.5E-05; 4.0E-03

0.020

1.000

2012

2017