DisGeNET - a database of gene-disease associations

List of associated variants

Polydactyly, C0152427

Source: CLINVAR ×

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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
rs1163162816	WNT10B	0.925	0.080	12	48968320	splice acceptor variant	C/G;T	snv		7.0E-06	2
rs886039792	TXNDC15	0.807	0.280	5	134874531	splice donor variant	G/A	snv			9
rs886039791	TXNDC15	0.882	0.160	5	134893572	inframe deletion	AGTTTGGCCCCTCAC/-	delins			5
rs751375244	TRAPPC3	0.827	0.280	1	36139776	missense variant	G/A	snv	1.2E-05	3.5E-05	6
rs886039807	TMEM231	0.776	0.480	16	75541466	non coding transcript exon variant	A/G	snv	4.2E-06		11
rs879255280	SMO	0.701	0.200	7	129206557	missense variant	C/T	snv			15
rs281875322	SMAD4	0.807	0.480	18	51078306	missense variant	A/G	snv	4.0E-06		4
rs1085307138	PUF60 ; SCRIB	0.807	0.160	8	143817591	splice donor variant	C/T	snv			9
rs1553794304	PIGX ; CEP19	0.851	0.160	3	196707860	stop gained	-/T	delins			6
rs754279998	MKS1	0.776	0.360	17	58208153	inframe deletion	GAG/-	delins	2.0E-05	1.4E-05	10
rs1488635637	MKS1	0.827	0.360	17	58208003	splice acceptor variant	T/C;G	snv		7.0E-06	6
rs786205508	MKS1	0.851	0.200	17	58208542	stop gained	G/A	snv			5
rs137853105	MKS1	0.882	0.160	17	58206479	missense variant	A/C	snv	5.6E-05	2.8E-05	4
rs886039803	MKS1	0.925	0.120	17	58216664	splice donor variant	A/T	snv			3
rs200750564	HOXD13	0.827	0.160	2	176094518	stop gained	C/T	snv	8.0E-06	7.0E-06	6
rs28933372	GLI3	0.827	0.120	7	41966273	missense variant	C/G	snv			1
rs201037487	FAM98C	0.925	0.120	19	38407003	stop gained	C/G;T	snv	4.0E-06; 1.4E-04; 4.0E-06	4.9E-05	7
rs121908425	EVC ; CRMP1	0.763	0.160	4	5748226	stop gained	C/A;T	snv	3.2E-05; 1.2E-05		14
rs753317536	EVC	0.790	0.160	4	5719239	intron variant	G/A;C	snv	8.0E-06; 4.0E-06		12
rs201948500	DYNC2LI1	0.882	0.120	2	43794485	missense variant	C/G	snv	2.4E-05	4.9E-05	4
rs374356079	DYNC2LI1	0.882	0.120	2	43805247	splice donor variant	G/A	snv	2.0E-05	7.0E-06	4
rs769975073	DYNC2LI1	0.882	0.120	2	43794508	stop gained	G/A	snv	6.0E-05	7.0E-06	4
rs879255656	DYNC2LI1	0.882	0.120	2	43805249	splice region variant	A/G	snv			4
rs1565329461	DYNC2H1	0.851	0.200	11	103135949	splice donor variant	G/A	snv			9
rs118203918	CILK1	0.882	0.160	6	53016099	missense variant	C/T	snv	4.0E-06		1