DisGeNET - a database of gene-disease associations

Metaphyseal widening, C1849039

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:

rs1260978141

rs1260978141

DYNC2H1

8

1.000

0.120

11

103125293

stop gained

C/T

snv

4.5E-06

0.700

dbSNP:

rs137853027

rs137853027

DYNC2H1

15

0.827

0.120

11

103220720

missense variant

A/G

snv

2.4E-04

2.6E-04

0.700

dbSNP:

rs886039909

rs886039909

HSPG2

6

0.882

0.120

1

21864095

splice region variant

C/T

snv

0.700