DisGeNET - a database of gene-disease associations

EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, C4225187

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:

rs142329098

rs142329098

SLC25A32

1

1.000

8

103403276

missense variant

C/T

snv

7.2E-05

2.1E-04

0.800

1.000

2016

2016

dbSNP:

rs147014855

rs147014855

SLC25A32

1

1.000

8

103403291

stop gained

C/T

snv

3.2E-05

1.4E-05

0.700