DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs201217593 ×

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:

rs201217593

rs201217593

DMD

0.790

0.200

X

31177947

stop gained

C/T

snv

2.2E-05

2.9E-05

CUI:	C0016842
Disease:	Congenital pectus excavatum

Congenital pectus excavatum

0.700

dbSNP:

rs201217593

rs201217593

DMD

0.790

0.200

X

31177947

stop gained

C/T

snv

2.2E-05

2.9E-05

CUI:	C3668940
Disease:	Dmd-Associated Dilated Cardiomyopathy

Dmd-Associated Dilated Cardiomyopathy

0.700

dbSNP:

rs201217593

rs201217593

DMD

0.790

0.200

X

31177947

stop gained

C/T

snv

2.2E-05

2.9E-05

CUI:	C1850049
Disease:	Clinodactyly of the 5th finger

Clinodactyly of the 5th finger

0.700

dbSNP:

rs201217593

rs201217593

DMD

0.790

0.200

X

31177947

stop gained

C/T

snv

2.2E-05

2.9E-05

CUI:	C0917713
Disease:	Becker Muscular Dystrophy

Becker Muscular Dystrophy

0.700

dbSNP:

rs201217593

rs201217593

DMD

0.790

0.200

X

31177947

stop gained

C/T

snv

2.2E-05

2.9E-05

CUI:	C0878544
Disease:	Cardiomyopathies

Cardiomyopathies

0.700

dbSNP:

rs201217593

rs201217593

DMD

0.790

0.200

X

31177947

stop gained

C/T

snv

2.2E-05

2.9E-05

CUI:	C0015300
Disease:	Exophthalmos

Exophthalmos

0.700

dbSNP:

rs201217593

rs201217593

DMD

0.790

0.200

X

31177947

stop gained

C/T

snv

2.2E-05

2.9E-05

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.700

dbSNP:

rs201217593

rs201217593

DMD

0.790

0.200

X

31177947

stop gained

C/T

snv

2.2E-05

2.9E-05

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.700