DisGeNET - a database of gene-disease associations

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36, C3809039

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:

rs730882213

rs730882213

SCAMP4 ; ADAT3

4

0.925

0.080

19

1912477

missense variant

G/A

snv

7.0E-06

0.700

dbSNP:

rs746859902

rs746859902

SCAMP4 ; ADAT3

1

1.000

19

1912141

frameshift variant

-/GAGCCCGG

delins

1.2E-05

7.0E-06

0.700