DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1057519732 ×

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:

rs1057519732

rs1057519732

MAP2K1

0.827

0.160

15

66436824

missense variant

C/A;T

snv

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

1.000

2009

2012

dbSNP:

rs1057519732

rs1057519732

MAP2K1

0.827

0.160

15

66436824

missense variant

C/A;T

snv

CUI:	C0279680
Disease:	Transitional cell carcinoma of bladder

Transitional cell carcinoma of bladder

0.700

1.000

2016

2016

dbSNP:

rs1057519732

rs1057519732

MAP2K1

0.827

0.160

15

66436824

missense variant

C/A;T

snv

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

1.000

2016

2016

dbSNP:

rs1057519732

rs1057519732

MAP2K1

0.827

0.160

15

66436824

missense variant

C/A;T

snv

CUI:	C0153574
Disease:	Malignant Uterine Corpus Neoplasm

Malignant Uterine Corpus Neoplasm

0.700

1.000

2016

2016

dbSNP:

rs1057519732

rs1057519732

MAP2K1

0.827

0.160

15

66436824

missense variant

C/A;T

snv

CUI:	C0151779
Disease:	Cutaneous Melanoma

Cutaneous Melanoma

0.700

1.000

2016

2016

dbSNP:

rs1057519732

rs1057519732

MAP2K1

0.827

0.160

15

66436824

missense variant

C/A;T

snv

CUI:	C3809006
Disease:	CARDIOFACIOCUTANEOUS SYNDROME 3

CARDIOFACIOCUTANEOUS SYNDROME 3

0.700