DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs121908216 ×

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:

rs121908216

rs121908216

CACNA1A

0.882

0.200

19

13235702

missense variant

C/T

snv

CUI:	C1720416
Disease:	Episodic ataxia type 2 (disorder)

Episodic ataxia type 2 (disorder)

0.800

1.000

1996

2011

dbSNP:

rs121908216

rs121908216

CACNA1A

0.882

0.200

19

13235702

missense variant

C/T

snv

CUI:	C0042571
Disease:	Vertigo

Vertigo

0.700

dbSNP:

rs121908216

rs121908216

CACNA1A

0.882

0.200

19

13235702

missense variant

C/T

snv

CUI:	C1263846
Disease:	Attention deficit hyperactivity disorder

Attention deficit hyperactivity disorder

0.700

dbSNP:

rs121908216

rs121908216

CACNA1A

0.882

0.200

19

13235702

missense variant

C/T

snv

CUI:	C0026351
Disease:	Moderate intellectual disability

Moderate intellectual disability

0.700

dbSNP:

rs121908216

rs121908216

CACNA1A

0.882

0.200

19

13235702

missense variant

C/T

snv

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

dbSNP:

rs121908216

rs121908216

CACNA1A

0.882

0.200

19

13235702

missense variant

C/T

snv

CUI:	C0454644
Disease:	Delayed speech and language development

Delayed speech and language development

0.700

dbSNP:

rs121908216

rs121908216

CACNA1A

0.882

0.200

19

13235702

missense variant

C/T

snv

CUI:	C0349588
Disease:	Short stature

Short stature

0.700