DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1565317399 ×

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:

rs1565317399

rs1565317399

DYNC2H1

0.882

0.120

11

103122879

stop gained

C/T

snv

CUI:	C1837482
Disease:	Thoracic hypoplasia

Thoracic hypoplasia

0.700

dbSNP:

rs1565317399

rs1565317399

DYNC2H1

0.882

0.120

11

103122879

stop gained

C/T

snv

CUI:	C1854912
Disease:	Short long bone

Short long bone

0.700

dbSNP:

rs1565317399

rs1565317399

DYNC2H1

0.882

0.120

11

103122879

stop gained

C/T

snv

CUI:	C0265275
Disease:	Jeune thoracic dystrophy

Jeune thoracic dystrophy

0.700

dbSNP:

rs1565317399

rs1565317399

DYNC2H1

0.882

0.120

11

103122879

stop gained

C/T

snv

CUI:	C0426817
Disease:	Short ribs

Short ribs

0.700

dbSNP:

rs1565317399

rs1565317399

DYNC2H1

0.882

0.120

11

103122879

stop gained

C/T

snv

CUI:	C4024597
Disease:	Aplasia/Hypoplasia involving the pelvis

Aplasia/Hypoplasia involving the pelvis

0.700

dbSNP:

rs1565317399

rs1565317399

DYNC2H1

0.882

0.120

11

103122879

stop gained

C/T

snv

CUI:	C0221357
Disease:	Brachydactyly

Brachydactyly

0.700