DisGeNET - a database of gene-disease associations

rs1057518805, SYT2;LOC105371686

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.

Muscle Weakness

CUI:	C0151786
Disease:	Muscle Weakness

87

1

202596928

inframe deletion

ATAGTC/-

delins

0.700

Respiratory distress

CUI:	C0476273
Disease:	Respiratory distress

16

1

202596928

inframe deletion

ATAGTC/-

delins

0.700