DisGeNET - a database of gene-disease associations

List of associated variants

2-3 toe syndactyly, C4551570

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
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs1557036768	HUWE1	0.708	0.320	X	53647390	missense variant	C/T	snv			44
rs1057524820	SCN8A	0.776	0.280	12	51765746	missense variant	G/A;T	snv			33
rs1554121443	SYNGAP1 ; MIR5004	0.742	0.280	6	33438873	stop gained	C/T	snv			29
rs1060499548	ABL1	0.724	0.440	9	130872961	missense variant	G/A	snv			27
rs1555429629	RAD51	0.763	0.200	15	40729632	missense variant	G/A	snv			23
rs1057524157	DEAF1	0.776	0.200	11	686962	missense variant	A/C;T	snv			19
rs1555955296	CDKL5	0.742	0.320	X	18628716	stop gained	C/T	snv			17
rs1135401744	KYNU	0.776	0.120	2	142918608	splice acceptor variant	G/T	snv	1.4E-04		14
rs1554504663	RHOBTB2	0.851	0.080	8	23007627	missense variant	G/A	snv			11
rs864309532	PHF6	0.807	0.360	X	134393952	missense variant	G/A	snv			7
rs768663992	CLUAP1	0.882	0.160	16	3508407	missense variant	T/G	snv	1.3E-05	4.2E-05	5
rs769705065	CLUAP1	0.882	0.160	16	3520011	stop gained	C/T	snv		7.0E-06	5
rs11555217	DHCR7	0.882	0.160	11	71441401	stop gained	C/G;T	snv	7.7E-04		5
rs779896782	DHCR7	0.882	0.160	11	71439055	missense variant	A/C;G	snv	8.0E-06		5