DisGeNET - a database of gene-disease associations

Source: BEFREE

Variant: rs121912438 ×

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:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C0023487
Disease:	Acute Promyelocytic Leukemia

Acute Promyelocytic Leukemia

0.010

1.000

2007

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C0278878
Disease:	Adult Glioblastoma

Adult Glioblastoma

0.010

1.000

2004

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C0002395
Disease:	Alzheimer's Disease

Alzheimer's Disease

0.020

1.000

2013

2019

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C0002726
Disease:	Amyloidosis

Amyloidosis

0.020

1.000

2012

2016

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C0002736
Disease:	Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis

0.100

0.995

416

1996

2020

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.900

1.000

1993

2016

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C4551993
Disease:	Amyotrophic Lateral Sclerosis, Familial

Amyotrophic Lateral Sclerosis, Familial

0.100

1.000

1996

2016

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C1862941
Disease:	Amyotrophic Lateral Sclerosis, Sporadic

Amyotrophic Lateral Sclerosis, Sporadic

0.010

1.000

2010

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C0079731
Disease:	B-Cell Lymphomas

B-Cell Lymphomas

0.010

1.000

2018

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C0004941
Disease:	Behavioral Symptoms

Behavioral Symptoms

0.010

1.000

2002

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C0007786
Disease:	Brain Ischemia

Brain Ischemia

0.010

1.000

2004

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C0678222
Disease:	Breast Carcinoma

Breast Carcinoma

0.010

1.000

2015

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C0700095
Disease:	Central neuroblastoma

Central neuroblastoma

0.100

1.000

1997

2013

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C0280474
Disease:	Childhood Glioblastoma

Childhood Glioblastoma

0.010

1.000

2004

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C4086165
Disease:	Childhood Neuroblastoma

Childhood Neuroblastoma

0.100

1.000

1997

2013

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C0008354
Disease:	Cholera

Cholera

0.010

1.000

2014

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C0037926
Disease:	Compression of spinal cord

Compression of spinal cord

0.010

1.000

2010

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C1136033
Disease:	Cutaneous Mastocytosis

Cutaneous Mastocytosis

0.010

1.000

2015

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C0268237
Disease:	Cytochrome-c Oxidase Deficiency

Cytochrome-c Oxidase Deficiency

0.010

1.000

2008

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C0011168
Disease:	Deglutition Disorders

Deglutition Disorders

0.010

1.000

2010

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C1611743
Disease:	Familial (FPAH)

Familial (FPAH)

0.050

1.000

2003

2019

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C0231230
Disease:	Fatigability

Fatigability

0.010

1.000

2011

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C0015672
Disease:	Fatigue

Fatigue

0.010

1.000

2010

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C0338451
Disease:	Frontotemporal dementia

Frontotemporal dementia

0.010

1.000

2018

dbSNP:

rs121912438

SOD1

0.605

0.520

31667299

missense variant

G/A;C;T

snv

1.2E-05; 8.0E-06

CUI:	C0205858
Disease:	General Paralysis

General Paralysis

0.010

1.000

2000