DisGeNET - a database of gene-disease associations

rs1555165204, COL2A1

N. diseases: 1

Source: ALL

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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.

Stickler syndrome, type 1

CUI:	C2020284
Disease:	Stickler syndrome, type 1

27

1.000

0.240

12

47977428

splice acceptor variant

C/T

snv

0.700