DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs374356079 ×

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:

rs374356079

rs374356079

DYNC2LI1

0.882

0.120

2

43805247

splice donor variant

G/A

snv

2.0E-05

7.0E-06

CUI:	C0152427
Disease:	Polydactyly

Polydactyly

0.700

dbSNP:

rs374356079

rs374356079

DYNC2LI1

0.882

0.120

2

43805247

splice donor variant

G/A

snv

2.0E-05

7.0E-06

CUI:	C4310724
Disease:	SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY

SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY

0.700

dbSNP:

rs374356079

rs374356079

DYNC2LI1

0.882

0.120

2

43805247

splice donor variant

G/A

snv

2.0E-05

7.0E-06

CUI:	C4551856
Disease:	Asphyxiating Thoracic Dystrophy 1

Asphyxiating Thoracic Dystrophy 1

0.700

dbSNP:

rs374356079

rs374356079

DYNC2LI1

0.882

0.120

2

43805247

splice donor variant

G/A

snv

2.0E-05

7.0E-06

CUI:	C0426817
Disease:	Short ribs

Short ribs

0.700