DisGeNET - a database of gene-disease associations

rs760277934, C1R

N. diseases: 2

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1

CUI:	C4551499
Disease:	EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1

13

0.925

0.160

12

7088853

missense variant

C/G;T

snv

4.1E-06

0.800

1.000

2016

2016

EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2

CUI:	C4310681
Disease:	EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2

16

0.925

0.160

12

7088853

missense variant

C/G;T

snv

4.1E-06

0.700