DisGeNET - a database of gene-disease associations

List of shared variants

Atrial Septal Defects, C0018817

Disease: Muscle hypotonia

Source: ALL

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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
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv			73
rs1555429629	RAD51	0.763	0.200	15	40729632	missense variant	G/A	snv			23
rs759125480	CEP120	0.827	0.160	5	123377409	stop gained	G/A	snv	1.6E-05		16
rs149830411	KANSL1	0.827	0.360	17	46171276	stop gained	G/A	snv	5.2E-05	5.6E-05	15