DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs397509426 ×

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:

rs397509426

GMPPB

0.882

0.080

49723632

missense variant

G/A

snv

8.0E-05

7.0E-06

CUI:	C3809221
Disease:	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14

0.800

1.000

2013

dbSNP:

rs397509426

GMPPB

0.882

0.080

49723632

missense variant

G/A

snv

8.0E-05

7.0E-06

CUI:	C3714932
Disease:	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

0.700

dbSNP:

rs397509426

GMPPB

0.882

0.080

49723632

missense variant

G/A

snv

8.0E-05

7.0E-06

CUI:	C0349588
Disease:	Short stature

Short stature

0.700

dbSNP:

rs397509426

GMPPB

0.882

0.080

49723632

missense variant

G/A

snv

8.0E-05

7.0E-06

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.700

dbSNP:

rs397509426

GMPPB

0.882

0.080

49723632

missense variant

G/A

snv

8.0E-05

7.0E-06

CUI:	C0014877
Disease:	Esotropia

Esotropia

0.700

dbSNP:

rs397509426

GMPPB

0.882

0.080

49723632

missense variant

G/A

snv

8.0E-05

7.0E-06

CUI:	C0454644
Disease:	Delayed speech and language development

Delayed speech and language development

0.700

dbSNP:

rs397509426

GMPPB

0.882

0.080

49723632

missense variant

G/A

snv

8.0E-05

7.0E-06

CUI:	C0002418
Disease:	Amblyopia

Amblyopia

0.700