DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs782661984 ×

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:

rs782661984

rs782661984

POLR3GL

0.925

0.040

1

145974824

splice acceptor variant

G/A

snv

2.3E-05

1.4E-05

CUI:	C4082304
Disease:	Oligodontia

Oligodontia

0.700

dbSNP:

rs782661984

rs782661984

POLR3GL

0.925

0.040

1

145974824

splice acceptor variant

G/A

snv

2.3E-05

1.4E-05

CUI:	C0349588
Disease:	Short stature

Short stature

0.700

dbSNP:

rs782661984

rs782661984

POLR3GL

0.925

0.040

1

145974824

splice acceptor variant

G/A

snv

2.3E-05

1.4E-05

CUI:	C0020492
Disease:	Hyperostosis

Hyperostosis

0.700

dbSNP:

rs782661984

rs782661984

POLR3GL

0.925

0.040

1

145974824

splice acceptor variant

G/A

snv

2.3E-05

1.4E-05

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.700