DisGeNET - a database of gene-disease associations

OVARIAN DYSGENESIS 7, C4748263

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:

rs753345594

rs753345594

MRPS22

4

0.851

0.160

3

139350279

missense variant

G/A;T

snv

1.6E-05; 4.0E-06

0.800

dbSNP:

rs774237195

rs774237195

MRPS22

1

1.000

3

139348224

missense variant

G/A;T

snv

4.0E-06

7.0E-06

0.700