DisGeNET - a database of gene-disease associations

List of associated variants

Congenital Camptodactyly, C0685409

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
rs1364709483	TBX2-AS1 ; TBX2	0.701	0.360	17	61400235	missense variant	G/A	snv		6.5E-05	36
rs1569509136	HUWE1	0.708	0.400	X	53647576	splice acceptor variant	T/C	snv			24
rs587776917	ECEL1	0.776	0.200	2	232485937	stop gained	-/T	delins			13
rs1567941252	PCGF2	0.807	0.240	17	38739601	missense variant	G/A	snv			10
rs778360818	PLOD2	0.851	0.120	3	146079255	missense variant	C/A	snv	4.0E-06	1.4E-05	9
rs780770356	PLOD2 ; LNCSRLR	0.851	0.120	3	146071125	stop gained	G/A	snv			9
rs1207534366	LGI4	0.882	0.080	19	35134679	start lost	A/C;G	snv			4
rs606231471	ECEL1	0.925	0.080	2	232481123	missense variant	C/A;T	snv	1.1E-05; 1.1E-05		3
rs1343670062	LOC105370855 ; TLN2	0.925	0.080	15	62686699	missense variant	C/T	snv	1.2E-05		2