DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1057519922 ×

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:

rs1057519922

NFE2L2

0.790

0.200

177234082

missense variant

C/G;T

snv

CUI:	C4540293
Disease:	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA

IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA

0.800

1.000

2017

dbSNP:

rs1057519922

NFE2L2

0.790

0.200

177234082

missense variant

C/G;T

snv

CUI:	C2239176
Disease:	Liver carcinoma

Liver carcinoma

0.700

1.000

2016

dbSNP:

rs1057519922

NFE2L2

0.790

0.200

177234082

missense variant

C/G;T

snv

CUI:	C1168401
Disease:	Squamous cell carcinoma of the head and neck

Squamous cell carcinoma of the head and neck

0.700

1.000

2016

dbSNP:

rs1057519922

NFE2L2

0.790

0.200

177234082

missense variant

C/G;T

snv

CUI:	C0279680
Disease:	Transitional cell carcinoma of bladder

Transitional cell carcinoma of bladder

0.700

1.000

2016

dbSNP:

rs1057519922

NFE2L2

0.790

0.200

177234082

missense variant

C/G;T

snv

CUI:	C0152013
Disease:	Adenocarcinoma of lung (disorder)

Adenocarcinoma of lung (disorder)

0.700

1.000

2016

dbSNP:

rs1057519922

NFE2L2

0.790

0.200

177234082

missense variant

C/G;T

snv

CUI:	C0007873
Disease:	Uterine Cervical Neoplasm

Uterine Cervical Neoplasm

0.700

1.000

2016

dbSNP:

rs1057519922

NFE2L2

0.790

0.200

177234082

missense variant

C/G;T

snv

CUI:	C0149782
Disease:	Squamous cell carcinoma of lung

Squamous cell carcinoma of lung

0.700

1.000

2016