DisGeNET - a database of gene-disease associations

Source: CLINVAR ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1057519850	CASC11 ; MYC		8	127738447	missense variant	C/T	snv			1
rs1057519851	MYC		8	127738995	missense variant	C/G	snv			1
rs1057519852	CDKN2A		9	21971030	stop gained	C/T	snv			1
rs1131692242	PIK3R1		5	68293722	inframe deletion	AGA/-	delins			1
rs1131692243	PIK3R1		5	68295419	splice region variant	GGT/-	delins			1
rs121913265	PDGFRA		4	54285925	missense variant	G/T	snv			1
rs121913325	STK11		19	1223060	stop gained	G/A	snv			1
rs121913335	BRAF		7	140753375	missense variant	T/G	snv			1
rs121913336	BRAF		7	140753374	missense variant	G/C;T	snv			1
rs121913362	BRAF		7	140753359	missense variant	T/C	snv			1
rs121913382	CDKN2A		9	21971178	stop gained	C/A;T	snv	4.6E-06		1
rs121913383	CDKN2A		9	21971154	stop gained	C/A	snv			1
rs121913389	CDKN2A		9	21971029	stop gained	C/T	snv			1
rs121913392	CSF1R		5	150054081	stop gained	A/C;T	snv			1
rs121913472	FGFR1		8	38424691	missense variant	G/T	snv			1
rs137853090	GALNT3	1.000	2	165761928	missense variant	G/A;T	snv	2.4E-05; 8.0E-06		1
rs137853091	GALNT3	1.000	2	165758862	missense variant	G/T	snv	4.0E-06		1
rs1565400045	ATM		11	108259050	frameshift variant	A/-	del			1
rs1565486028	ATM		11	108307917	frameshift variant	-/G	delins			1
rs5030828	VHL		3	10142101	missense variant	T/C	snv			1
rs587782160	TP53		17	7675221	missense variant	T/A	snv			1
rs730880502	MAP2K1		15	66436762	missense variant	T/A;G	snv			1
rs773686816	PIK3R1		5	68295271	missense variant	C/A;G;T	snv	4.0E-06		1
rs775522201	CASC11 ; MYC		8	127738393	missense variant	C/T	snv			1
rs779151375	SDHA		5	236507	missense variant	A/G	snv	8.0E-06	1.4E-05	1