DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1057519757 ×

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:

rs1057519757

rs1057519757

PIK3R1

0.882

0.120

5

68293310

missense variant

G/A;C

snv

CUI:	C0027651
Disease:	Neoplasms

Neoplasms

0.700

1.000

2010

2014

dbSNP:

rs1057519757

rs1057519757

PIK3R1

0.882

0.120

5

68293310

missense variant

G/A;C

snv

CUI:	C0006118
Disease:	Brain Neoplasms

Brain Neoplasms

0.700

1.000

2016

2016

dbSNP:

rs1057519757

rs1057519757

PIK3R1

0.882

0.120

5

68293310

missense variant

G/A;C

snv

CUI:	C0280630
Disease:	Uterine Carcinosarcoma

Uterine Carcinosarcoma

0.700

1.000

2016

2016

dbSNP:

rs1057519757

rs1057519757

PIK3R1

0.882

0.120

5

68293310

missense variant

G/A;C

snv

CUI:	C0151779
Disease:	Cutaneous Melanoma

Cutaneous Melanoma

0.700

1.000

2016

2016

dbSNP:

rs1057519757

rs1057519757

PIK3R1

0.882

0.120

5

68293310

missense variant

G/A;C

snv

CUI:	C0017636
Disease:	Glioblastoma

Glioblastoma

0.700

1.000

2016

2016