DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1057518874 ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1057518874

rs1057518874

SPG11

15

44598738

missense variant

C/A

snv

CUI:	C0311394
Disease:	Difficulty walking

Difficulty walking

0.700

dbSNP:

rs1057518874

rs1057518874

SPG11

15

44598738

missense variant

C/A

snv

CUI:	C0575081
Disease:	Gait abnormality

Gait abnormality

0.700

dbSNP:

rs1057518874

rs1057518874

SPG11

15

44598738

missense variant

C/A

snv

CUI:	C0037771
Disease:	Paraparesis, Spastic

Paraparesis, Spastic

0.700

dbSNP:

rs1057518874

rs1057518874

SPG11

15

44598738

missense variant

C/A

snv

CUI:	C4024949
Disease:	Generalized hyperreflexia

Generalized hyperreflexia

0.700