DisGeNET - a database of gene-disease associations

rs1556370543, SRY

N. diseases: 2

Source: CURATED ×

Results per page

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

CUI:	C2748896
Disease:	46,Xy Gonadal Dysgenesis, Complete, Sry-Related

27

0.925

0.160

Y

2787273

stop gained

G/A

snv

0.700

Ovotesticular Disorders of Sex Development

CUI:	C2748895
Disease:	Ovotesticular Disorders of Sex Development

1

0.925

0.160

Y

2787273

stop gained

G/A

snv

0.700