DisGeNET - a database of gene-disease associations

KCNQ1, potassium voltage-gated channel subfamily Q member 1, 3784

N. diseases: 281; N. variants: 380

Disease: Polyhydramnios ×

Variant: rs12720458 ×

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

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs12720458

rs12720458

Entrez Id:	3784
Gene Symbol:	KCNQ1

KCNQ1

CUI:	C0020224
Disease:

Polyhydramnios

G

0.700

GeneticVariation

CLINVAR