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
rs397507828	BRCA2	1.000	13	32340440	stop gained	G/T	snv			3
rs397508838	BRCA1	0.925	17	43094416	stop gained	C/T	snv		7.0E-06	3
rs104894194	AIP	0.925	11	67483198	stop gained	C/T	snv	2.8E-05	2.1E-05	2
rs1057519836	CTNNB1		3	41224630	missense variant	A/C;G;T	snv			2
rs121913381	CDKN2A		9	21971037	missense variant	C/A;T	snv			2
rs121913390	CSF1R		5	150073481	stop gained	A/G;T	snv			2
rs121913393	CSF1R		5	150054083	missense variant	A/G	snv			2
rs1801271	CSF1R		5	150054082	missense variant	T/A;C	snv			2
rs200397144	SDHA	1.000	5	251427	missense variant	C/G;T	snv	2.4E-05; 4.0E-06		2
rs876659253	BRCA1	1.000	17	43094296	frameshift variant	ACAT/TG	delins			2
rs878853824	MSH2		2	47412558	stop gained	C/T	snv			2
rs1057519761	KIT		4	54733175	missense variant	T/G	snv			1
rs1057519817	ERBB3		12	56088073	missense variant	C/A;G	snv	4.0E-06		1
rs1057519820	MAP2K1		15	66436810	missense variant	A/C	snv			1
rs1057519821	MAP2K1		15	66436814	missense variant	G/C;T	snv			1
rs1057519823	MAP2K1		15	66481830	missense variant	T/C	snv			1
rs1057519827	ESR1		6	152011697	missense variant	G/C	snv			1
rs1057519839	PIK3R1		5	68295257	missense variant	G/T	snv			1
rs1057519840	PIK3R1		5	68295257	inframe deletion	GACAAACGTATGAACAGC/-	del			1
rs1057519842	PIK3R1		5	68295304	inframe deletion	CGA/-	delins			1
rs1057519843	APC		5	112839522	frameshift variant	AAGATTGGAAC/-	del			1
rs1057519844	APC		5	112839522	frameshift variant	AAGATTGGAACTAGGTCAGC/-	del			1
rs1057519845	APC		5	112839990	frameshift variant	GGACC/-	del			1
rs1057519846	APC		5	112840263	frameshift variant	ATTGATTC/-	del			1
rs1057519849	CASC11 ; MYC		8	127738386	missense variant	C/T	snv			1