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
rs137852832	CEP290	0.716	0.280	12	88077263	stop gained	C/A	snv	9.5E-05	6.3E-05	17
rs758522600	BBS10	0.851	0.240	12	76347023	frameshift variant	CTAA/-	delins	4.0E-06	2.8E-05	7
rs886039807	TMEM231	0.776	0.480	16	75541466	non coding transcript exon variant	A/G	snv	4.2E-06		11
rs886039800	BBS4	0.851	0.240	15	72735944	frameshift variant	G/-	del			6
rs886039802	BBS4	0.851	0.200	15	72712259	stop gained	C/T	snv			6
rs113624356	BBS1 ; ZDHHC24	0.724	0.400	11	66526181	missense variant	T/G	snv	1.5E-03	2.1E-03	17
rs886039803	MKS1	0.925	0.120	17	58216664	splice donor variant	A/T	snv			3
rs786205508	MKS1	0.851	0.200	17	58208542	stop gained	G/A	snv			5
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
rs137853105	MKS1	0.882	0.160	17	58206479	missense variant	A/C	snv	5.6E-05	2.8E-05	4
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
rs121908175	BBS2	0.790	0.160	16	56519791	stop gained	G/C	snv	5.2E-05	2.8E-05	8
rs886039797	BBS2	0.807	0.280	16	56502807	missense variant	A/C	snv	4.0E-06		7
rs147030232	BBS2	0.827	0.160	16	56501014	stop gained	G/A;C	snv	2.0E-05; 4.0E-06		8
rs121912765	BMP4	0.925	0.240	14	53951945	missense variant	T/C	snv	2.4E-05	7.0E-06	1
rs118203918	CILK1	0.882	0.160	6	53016099	missense variant	C/T	snv	4.0E-06		1
rs281875322	SMAD4	0.807	0.480	18	51078306	missense variant	A/G	snv	4.0E-06		4
rs1163162816	WNT10B	0.925	0.080	12	48968320	splice acceptor variant	C/G;T	snv		7.0E-06	2
rs879255655	ABCG5 ; DYNC2LI1	0.882	0.120	2	43809711	stop gained	G/T	snv			4
rs879255656	DYNC2LI1	0.882	0.120	2	43805249	splice region variant	A/G	snv			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
rs201948500	DYNC2LI1	0.882	0.120	2	43794485	missense variant	C/G	snv	2.4E-05	4.9E-05	4