DisGeNET - a database of gene-disease associations

MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, C4225362

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:

rs200092283

rs200092283

TP53BP1 ; TUBGCP4

2

0.925

0.160

15

43403697

synonymous variant

G/T

snv

3.0E-04

3.3E-04

0.700

dbSNP:

rs794726855

rs794726855

TUBGCP4

1

1.000

15

43383359

frameshift variant

-/T

delins

0.700

dbSNP:

rs794726856

rs794726856

TUBGCP4

1

1.000

15

43376592

frameshift variant

T/-

delins

0.700