DisGeNET - a database of gene-disease associations

List of associated variants

Adenoma, C0001430

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
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913409	CTNNB1	0.708	0.400	3	41224646	missense variant	C/A;G;T	snv			21
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			63
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv			25
rs1268298845	APC	0.882	0.120	5	112780878	missense variant	G/A	snv	4.0E-06		4
rs1290398674	GNAS	0.851	0.240	20	58854075	missense variant	G/A;T	snv			5
rs142163070	GML ; CYP11B1			8	142877100	missense variant	T/C	snv	2.0E-04	4.5E-04	1
rs142287570	GCM2	1.000		6	10874335	missense variant	T/G	snv	6.6E-04	4.9E-04	2
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs146462069	IGSF1			X	131278706	missense variant	T/C;G	snv	3.8E-05; 9.5E-03		2
rs150766139	NTHL1 ; TSC2	0.742	0.320	16	2046238	stop gained	G/A	snv	1.4E-03	1.4E-03	13
rs1535989		0.925	0.080	13	105370372	intergenic variant	A/G;T	snv			4
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs17503908	ATM ; C11orf65	1.000	0.080	11	108344670	intron variant	T/G	snv		6.7E-02	2
rs17817449	FTO	0.716	0.560	16	53779455	intron variant	T/A;G	snv			21
rs1799732	DRD2 ; LOC105369501	0.790	0.160	11	113475529	intron variant	-/G	delins			11
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1799977	MLH1	0.662	0.440	3	37012077	missense variant	A/C;G;T	snv	0.23		28
rs1800497	ANKK1	0.620	0.400	11	113400106	missense variant	G/A	snv	0.26	0.26	56
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	42
rs1801166	APC	0.732	0.200	5	112839543	missense variant	G/C	snv	4.4E-03	5.6E-03	17