DisGeNET - a database of gene-disease associations

rs121913288, PIK3CA

N. diseases: 2

Source: ALL

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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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Mammary Neoplasms

CUI:	C1458155
Disease:	Mammary Neoplasms

385

1.000

0.200

3

179234219

missense variant

A/G

snv

0.700

1.000

2014

2014

Megalencephaly cutis marmorata telangiectatica congenita

CUI:	C1865285
Disease:	Megalencephaly cutis marmorata telangiectatica congenita

18

1.000

0.200

3

179234219

missense variant

A/G

snv

0.700