DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Chorea Acanthocytosis Syndrome ×

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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

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:

rs119477052

rs119477052

VPS13A

1.000

0.080

9

77205394

missense variant

T/A;C

snv

2.0E-05

CUI:	C0393576
Disease:	Chorea Acanthocytosis Syndrome

Chorea Acanthocytosis Syndrome

0.700

dbSNP:

rs119477053

rs119477053

VPS13A

1.000

0.080

9

77213240

stop gained

C/T

snv

1.2E-05

7.0E-06

CUI:	C0393576
Disease:	Chorea Acanthocytosis Syndrome

Chorea Acanthocytosis Syndrome

0.700