DisGeNET - a database of gene-disease associations

CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, C3280965

Source: ALL

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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

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:

rs281875283

rs281875283

SLC33A1 ; LOC105374174

1

1.000

3

155853670

missense variant

C/G

snv

0.800

1.000

2012

2012

dbSNP:

rs863223316

rs863223316

SLC33A1 ; LOC105374174

1

1.000

3

155853383

frameshift variant

-/A

delins

0.700