DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: MMEL1 ×

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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
rs3748816	MMEL1	0.827	0.200	1	2595307	missense variant	A/G	snv	0.41	0.46	7
rs3890745	MMEL1	0.925	0.200	1	2622185	intron variant	T/C	snv		0.40	4
rs2843403	MMEL1	0.882	0.200	1	2597658	intron variant	T/C	snv		0.54	3
rs10752747	MMEL1			1	2593476	intron variant	G/T	snv		0.41	2
rs12138909	MMEL1			1	2607299	intron variant	C/T	snv		0.11	2
rs4073285	MMEL1	0.925	0.200	1	2608357	intron variant	C/T	snv		0.40	2
rs6684865	MMEL1	0.925	0.160	1	2614790	intron variant	G/A	snv		0.40	2
rs187786174	MMEL1	1.000	0.120	1	2592372	intron variant	G/A	snv			1
rs2843401	MMEL1	1.000	0.120	1	2596694	splice region variant	T/C	snv	0.61	0.59	1
rs3748817	MMEL1	1.000	0.080	1	2594226	intron variant	T/C	snv		0.46	1
rs4445406	MMEL1	1.000	0.080	1	2607961	intron variant	T/C	snv		0.41	1