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	Chr	Position	Consequence	Alleles	Class	AF EXOME	Num. diseases
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
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
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