DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Abnormality of aortic valve ×

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

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs397517154

rs397517154

SOS1

0.763

0.280

2

39022773

missense variant

C/A;G;T

snv

4.0E-06

CUI:	C3164445
Disease:	Abnormality of aortic valve

Abnormality of aortic valve

0.700

dbSNP:

rs483352822

rs483352822

RIT1

0.776

0.360

1

155904470

stop lost

C/A;G;T

snv

CUI:	C3164445
Disease:	Abnormality of aortic valve

Abnormality of aortic valve

0.700