DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs114303883 ×

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:

rs114303883

rs114303883

ABCC6

1.000

0.160

16

16182534

stop gained

C/A;T

snv

9.1E-05

4.2E-05

CUI:	C0241148
Disease:	Cutaneous plaque

Cutaneous plaque

0.700

dbSNP:

rs114303883

rs114303883

ABCC6

1.000

0.160

16

16182534

stop gained

C/A;T

snv

9.1E-05

4.2E-05

CUI:	C0035317
Disease:	Retinal Hemorrhage

Retinal Hemorrhage

0.700

dbSNP:

rs114303883

rs114303883

ABCC6

1.000

0.160

16

16182534

stop gained

C/A;T

snv

9.1E-05

4.2E-05

CUI:	C0021775
Disease:	Intermittent Claudication

Intermittent Claudication

0.700

dbSNP:

rs114303883

rs114303883

ABCC6

1.000

0.160

16

16182534

stop gained

C/A;T

snv

9.1E-05

4.2E-05

CUI:	C1867453
Disease:	Peau d'orange retinal changes

Peau d'orange retinal changes

0.700

dbSNP:

rs114303883

rs114303883

ABCC6

1.000

0.160

16

16182534

stop gained

C/A;T

snv

9.1E-05

4.2E-05

CUI:	C0332563
Disease:	Papule

Papule

0.700

dbSNP:

rs114303883

rs114303883

ABCC6

1.000

0.160

16

16182534

stop gained

C/A;T

snv

9.1E-05

4.2E-05

CUI:	C0522055
Disease:	Electrocardiogram abnormal

Electrocardiogram abnormal

0.700

dbSNP:

rs114303883

rs114303883

ABCC6

1.000

0.160

16

16182534

stop gained

C/A;T

snv

9.1E-05

4.2E-05

CUI:	C0033847
Disease:	Pseudoxanthoma Elasticum

Pseudoxanthoma Elasticum

0.700

dbSNP:

rs114303883

rs114303883

ABCC6

1.000

0.160

16

16182534

stop gained

C/A;T

snv

9.1E-05

4.2E-05

CUI:	C0002962
Disease:	Angina Pectoris

Angina Pectoris

0.700