DisGeNET - a database of gene-disease associations

List of shared variants

Seizures, C0036572

Disease: Cryptorchidism

Source: INFERRED ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs875989800	SMARCB1	0.732	0.480	22	23833670	inframe deletion	AGA/-	delins			33
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		20
rs587784105	NSD1	0.732	0.440	5	177235863	stop gained	G/A	snv			19
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18
rs759317757	OTUD6B	0.807	0.280	8	91078416	frameshift variant	TTAAC/-	delins			12
rs1557569831	SZT2	0.925	0.120	1	43431458	splice acceptor variant	A/G	snv			8
rs746200792	SZT2	0.925	0.120	1	43437254	inframe deletion	TGT/-	delins			8