DisGeNET - a database of gene-disease associations

List of associated variants

Charcot-Marie-Tooth disease type 4, C4082197

Source: ALL

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
rs80338933	SH3TC2	0.807	0.080	5	149026872	stop gained	G/A	snv	7.5E-04; 4.0E-06	6.6E-04	9
rs104894077	GDAP1	0.790	0.080	8	74361886	stop gained	C/T	snv	7.6E-05	1.5E-04	8
rs104894158	EGR2	0.851	0.080	10	62813835	missense variant	A/T	snv			5
rs104894078	GDAP1	0.851	0.080	8	74360184	missense variant	C/T	snv		7.0E-06	5
rs119483085	NDRG1	0.851	0.160	8	133258374	stop gained	G/A	snv		7.0E-06	5
rs104894708	PRX	0.851	0.120	19	40395144	stop gained	G/A	snv	8.0E-06		5
rs104894707	PRX	0.882	0.080	19	40396207	stop gained	A/T	snv	8.0E-06	5.6E-05	4
rs80338934	SH3TC2	0.882	0.080	5	149010272	stop gained	G/A	snv	4.0E-05	3.5E-05	4
rs80359890	SH3TC2	0.851	0.080	5	149042718	missense variant	A/G	snv	1.6E-03; 4.0E-06	2.0E-03	4
rs121908287	FIG4	0.882	0.120	6	109715133	missense variant	T/C	snv	9.8E-04	1.1E-03	3
rs764717219	FIG4	0.882	0.120	6	109738435	frameshift variant	G/-	delins	3.2E-05	1.4E-05	3
rs118203974	FGD4	0.925	0.080	12	32601410	stop gained	C/T	snv	4.0E-06	7.0E-06	2
rs281865065	FGD4	0.925	0.080	12	32633547	splice acceptor variant	A/G	snv			2
rs63749871	FGD4	0.925	0.080	12	32602217	missense variant	T/C;G	snv	4.0E-06		2
rs281865060	GDAP1	0.925	0.080	8	74360173	missense variant	T/C;G	snv	8.0E-06	7.0E-06	2
rs121434402	MTMR2	0.925	0.080	11	95845063	stop gained	G/A	snv	4.0E-06	7.0E-06	2
rs121434403	MTMR2	0.925	0.080	11	95849841	stop gained	C/A;T	snv			2
rs104894714	PRX	0.925	0.080	19	40395495	stop gained	G/A	snv	3.2E-05		2
rs80338925	SH3TC2	0.925	0.080	5	149027763	missense variant	C/T	snv	2.4E-05		2
rs80338926	SH3TC2	0.925	0.080	5	149027760	missense variant	G/A;T	snv	2.4E-05; 4.0E-06		2
rs80338930	SH3TC2	0.925	0.080	5	149027090	missense variant	T/A;C	snv	2.0E-05		2
rs80338931	SH3TC2	0.925	0.080	5	149027022	stop gained	G/A	snv	4.4E-05	2.8E-05	2
rs863224454	SH3TC2	0.925	0.080	5	149028145	missense variant	AC/CT	mnv			2
rs864622664	SH3TC2	0.925	0.080	5	149010294	frameshift variant	C/-	delins		7.0E-06	2
rs1393673267	FGD4	1.000	0.080	12	32602315	frameshift variant	C/-	del		3.5E-05	1