DisGeNET - a database of gene-disease associations

rs74315471, ARSA

N. diseases: 2

Source: CLINVAR ×

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.

Leukodystrophy, Metachromatic

CUI:	C0023522
Disease:	Leukodystrophy, Metachromatic

98

0.925

0.120

22

50626706

missense variant

C/T

snv

1.2E-05

7.0E-06

0.800

1.000

1993

2017

METACHROMATIC LEUKODYSTROPHY, SEVERE

CUI:	C4017094
Disease:	METACHROMATIC LEUKODYSTROPHY, SEVERE

7

0.925

0.120

22

50626706

missense variant

C/T

snv

1.2E-05

7.0E-06

0.700