DisGeNET - a database of gene-disease associations

List of associated variants

RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, C2674723

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
rs112445441	KRAS	0.658	0.400	12	25245347	missense variant	C/A;G;T	snv			32
rs121434596	NRAS	0.677	0.440	1	114716123	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		26
rs104894360	KRAS	0.724	0.560	12	25209904	missense variant	T/A;C	snv			14
rs121913535	KRAS	0.742	0.320	12	25245348	missense variant	C/A;G;T	snv			14
rs104894366	KRAS	0.776	0.400	12	25245284	missense variant	G/A;C	snv			9
rs730880471	KRAS	0.851	0.280	12	25225709	missense variant	C/T	snv			4
rs17860403	CASP10	0.882	0.160	2	201208114	missense variant	C/T	snv	2.4E-05	2.0E-04	3
rs121913080	FAS	0.882	0.160	10	89014191	missense variant	G/C	snv			3
rs80358239	CASP10	0.925	0.160	2	201209363	missense variant	A/C;T	snv	4.5E-03		2
rs1564696849	FAS	0.925	0.160	10	89012082	splice donor variant	G/A	snv			2
rs1564686301	FAS	1.000	0.160	10	89003108	stop gained	T/A	snv			1
rs1564699214	FAS	1.000	0.160	10	89014196	frameshift variant	A/-	delins			1
rs587776450	FASLG	1.000	0.160	1	172659460	frameshift variant	T/-	delins			1