DisGeNET - a database of gene-disease associations

List of associated variants

Abnormality of the skeletal system, C4021790

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
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs121913105	FGFR3	0.653	0.600	4	1806163	missense variant	A/C;T	snv			30
rs1131692231	CYFIP2	0.827	0.280	5	157294834	missense variant	C/T	snv			13
rs1131692272	AFF3	0.851	0.240	2	100006808	missense variant	C/T	snv			9
rs1057519338	AMMECR1	0.882		X	110264571	stop gained	G/A	snv			8
rs765498367	LOC105373312 ; AMMECR1	0.925		X	110317643	stop gained	A/G;T	snv	1.2E-04	2.8E-05	6
rs104894378	TBX5	0.882	0.120	12	114385521	missense variant	C/G;T	snv			6
rs183758503	SPAG17	0.851	0.160	1	118093260	missense variant	C/G;T	snv	2.0E-04; 1.2E-05		5
rs104894381	TBX5	0.925	0.120	12	114401830	missense variant	C/T	snv			5
rs200140363	WDR35	0.851	0.160	2	19953852	missense variant	C/T	snv	3.2E-05	2.8E-05	5
rs730882202	CACNA1G	0.925	0.160	17	50571953	inframe deletion	TTC/-	delins			4
rs786204848	DDX58	0.882	0.040	9	32488884	missense variant	C/A	snv			4
rs121434597	PTH1R	0.851	0.120	3	46898691	missense variant	A/G	snv			4
rs373730800	SBDS ; TYW1	0.925		7	66995320	missense variant	T/C;G	snv	6.0E-05		4
rs672601337	BHLHA9	0.882	0.080	17	1270774	missense variant	A/G	snv			3
rs672601338	BHLHA9	0.882	0.080	17	1270781	missense variant	G/C	snv		7.0E-06	3
rs672601339	BHLHA9	0.882	0.080	17	1270787	missense variant	G/T	snv			3
rs1560165127	NKX3-2	0.925	0.080	4	13542487	frameshift variant	TG/-	del			2