DisGeNET - a database of gene-disease associations

Glutaric Aciduria III, C0342873

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:

rs137852860

rs137852860

SUGCT

1

1.000

0.080

7

40459197

missense variant

C/T

snv

4.6E-03

4.8E-03

0.800

1.000

2008

2014

dbSNP:

rs137852861

rs137852861

SUGCT

1

1.000

0.080

7

40237664

stop gained

C/A;T

snv

1.2E-05

0.700