DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: MED12 ×

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
rs80338758	MED12	0.790	0.400	X	71127367	missense variant	C/A;T	snv			9
rs1057518921	MED12	1.000		X	71132465	missense variant	G/A	snv			7
rs1057519381	MED12	0.851	0.240	X	71124276	missense variant	G/A	snv			6
rs1057519912	MED12	0.776	0.200	X	71129408	missense variant	C/G;T	snv			5
rs765417606	MED12	0.882	0.400	X	71124263	missense variant	A/G	snv	2.8E-05	8.6E-05	3
rs1556340124	MED12	1.000		X	71141320	stop gained	C/T	snv			2
rs1556334793	MED12	1.000		X	71122558	frameshift variant	G/-	delins			2
rs80338759	MED12	0.925	0.280	X	71127931	missense variant	A/G	snv			2
rs1569481124	MED12	1.000	0.160	X	71123155	missense variant	C/T	snv			1
rs879255527	MED12	1.000	0.160	X	71137791	frameshift variant	-/C	delins			1
rs397515554	MED12	1.000	0.160	X	71127359	missense variant	G/A	snv			1
rs863223696	MED12	1.000	0.160	X	71132100	missense variant	G/A	snv			1
rs762905361	MED12	1.000	0.160	X	71126057	missense variant	G/A	snv	5.5E-06	9.6E-06	1
rs879255526	MED12	1.000	0.160	X	71127978	missense variant	A/G	snv			1
rs1569482153	MED12			X	71134817	missense variant	G/A	snv			1
rs387907362	MED12	1.000	0.280	X	71136440	missense variant	C/A	snv			1
rs387907361	MED12	1.000	0.280	X	71129131	missense variant	T/C	snv			1
rs387907360	MED12	1.000	0.280	X	71128686	missense variant	G/A;T	snv			1