DisGeNET - a database of gene-disease associations

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, C3809327

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

Variant

Gene

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs145522851

rs145522851

SPTBN2

4

0.925

0.080

11

66685935

missense variant

C/T

snv

1.0E-04

1.2E-04

0.700

dbSNP:

rs146859515

rs146859515

SPTBN2

1

1.000

11

66705395

stop gained

G/A;T

snv

4.1E-06

0.700

dbSNP:

rs373728971

rs373728971

SPTBN2

1

1.000

11

66701231

frameshift variant

GTGAG/-;GTGAGGTGAG

delins

0.700