DisGeNET - a database of gene-disease associations

List of associated variants

Juberg-Marsidi syndrome, C0796003

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
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			73
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs727503094	LRRC56 ; HRAS	0.633	0.440	11	534287	missense variant	GC/AG;AT;TA;TT	mnv			41
rs398123425	ATRX	0.776	0.320	X	77688876	missense variant	T/C	snv			9
rs122445108	ATRX	0.807	0.320	X	77717155	stop gained	G/A	snv			7
rs122445110	ATRX	0.882	0.200	X	77589902	missense variant	A/G	snv			4
rs122445101	ATRX	0.882	0.240	X	77558781	missense variant	C/T	snv			3
rs122445105	ATRX	0.882	0.240	X	77684520	missense variant	G/A	snv			3
rs122445103	ATRX	0.925	0.240	X	77688844	missense variant	G/C	snv			2
rs122445109	ATRX	0.925	0.200	X	77684030	missense variant	A/G	snv			2
rs122445111	ATRX	0.925	0.200	X	77684942	missense variant	C/T	snv			2
rs122445112	ATRX	0.925	0.200	X	77523290	missense variant	T/C	snv	5.5E-06		2
rs1057517948	ATRX	1.000	0.200	X	77574322	missense variant	C/A;T	snv			1