DisGeNET - a database of gene-disease associations

List of associated variants

Large hand, C0426870

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
rs1565706229	EED ; MIR6755	0.851	0.120	11	86277110	missense variant	T/C	snv			18
rs1569301036	TAF1	0.827	0.240	X	71397354	missense variant	C/T	snv			17
rs1555483699	GRIN2A	0.851	0.120	16	9768994	missense variant	C/T	snv			10
rs1057519565	DEAF1	0.851	0.200	11	687941	missense variant	C/T	snv			9
rs786204849	FIBP	0.882	0.200	11	65885181	stop gained	G/A	snv			7