DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: POMC ×

Results per page

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
rs768768839	POMC	0.807	0.280	2	25161679	missense variant	G/A	snv	5.6E-06		6
rs1042571	POMC	0.882	0.120	2	25161018	3 prime UTR variant	G/A	snv		0.16	3
rs1351141519	POMC	0.882	0.200	2	25161718	missense variant	G/C	snv			3
rs1364647619	POMC	0.925	0.080	2	25161334	missense variant	C/T	snv			3
rs1449052677	POMC	0.882	0.120	2	25161643	missense variant	T/C	snv	1.3E-05		3
rs28932472	POMC	0.925	0.080	2	25161179	missense variant	G/C	snv	2.7E-03	2.8E-03	3
rs1208512558	POMC	0.925	0.040	2	25161623	missense variant	C/G;T	snv	6.7E-06		2
rs1477692170	POMC	0.925	0.160	2	25161686	stop gained	C/A;G;T	snv	1.1E-05		2
rs201408477	POMC	0.925	0.080	2	25161455	missense variant	A/G	snv	1.8E-04	1.6E-04	2
rs750136455	POMC	0.925	0.120	2	25161569	missense variant	C/T	snv	2.5E-05	7.0E-06	2
rs752077839	POMC	0.925		2	25161329	missense variant	G/A	snv	8.8E-06		2
rs768299768	POMC	0.925	0.200	2	25161505	missense variant	C/A;T	snv	9.2E-06		2
rs80326661	POMC	0.925	0.120	2	25161244	missense variant	T/C	snv	5.4E-03	5.4E-03	2
rs917202708	POMC	0.925	0.160	2	25161716	missense variant	C/G;T	snv			2
rs1009388	POMC	1.000	0.040	2	25168232	intron variant	G/C	snv		0.18	1
rs10654394	POMC	1.000	0.080	2	25161588	inframe insertion	CGCTGCTGC/-;CGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC	delins	3.9E-05		1
rs1173597023	POMC	1.000	0.080	2	25161441	missense variant	C/G	snv	4.2E-06		1
rs1181875747	POMC	1.000	0.080	2	25161629	stop gained	G/A;C;T	snv	6.7E-06; 1.3E-05		1
rs121918111	POMC	1.000	0.120	2	25161572	stop gained	C/A;G;T	snv	6.2E-06		1
rs121918112	POMC	1.000	0.120	2	25161734	stop gained	T/A	snv		7.0E-06	1
rs1237859972	POMC	1.000	0.080	2	25161178	missense variant	C/T	snv			1
rs12473543	POMC	1.000	0.120	2	25164312	intron variant	T/G	snv		0.24	1
rs1265342534	POMC	1.000	0.160	2	25161191	missense variant	G/C	snv	4.0E-06		1
rs149540566	POMC	1.000	0.080	2	25161223	missense variant	T/C	snv	8.5E-04	9.4E-04	1
rs1553400259	POMC	1.000	0.120	2	25161754	splice acceptor variant	T/G	snv			1