DisGeNET - a database of gene-disease associations

Congenital Hypothyroidism, C0010308

Variant: rs1169358460 ×

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:

rs1169358460

rs1169358460

DUOX2

1

1.000

0.120

15

45106906

frameshift variant

G/-

del

5.0E-06

0.020

1.000

2016

2016