DisGeNET - a database of gene-disease associations

List of associated variants

Oligodontia, C4082304

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
rs4498834	CACNA1S	0.776	0.160	1	201111170	intron variant	T/C	snv		0.56	8
rs1553763618	POLR3GL	0.925	0.040	1	145977482	splice acceptor variant	G/A	snv			4
rs782661984	POLR3GL	0.925	0.040	1	145974824	splice acceptor variant	G/A	snv	2.3E-05	1.4E-05	4
rs121908120	WNT10A	0.701	0.280	2	218890289	missense variant	T/A	snv	1.4E-02	1.4E-02	19
rs147680216	WNT10A	0.742	0.160	2	218890244	missense variant	G/A	snv	2.1E-03	6.9E-04	11
rs121908119	WNT10A ; LOC107984111	0.763	0.200	2	218882368	stop gained	C/A	snv	6.2E-04	8.5E-04	10
rs2034604	ARHGAP15	0.776	0.160	2	143201176	intron variant	C/G;T	snv			8
rs35822372		0.776	0.160	2	88438931	intergenic variant	C/A;T	snv			8
rs374910216	LOC107984111 ; WNT10A	0.882	0.080	2	218882358	missense variant	G/A	snv	2.4E-05		3
rs750190755	WNT10A	0.882	0.080	2	218893087	missense variant	C/T	snv	4.1E-05	7.0E-06	3
rs35956082	FOXP1	0.776	0.160	3	71414748	intron variant	A/C;G	snv			8
rs917412		0.776	0.160	4	108350621	TF binding site variant	C/T	snv		0.21	8
rs34165410	MSX1	0.925	0.080	4	4860247	synonymous variant	C/G;T	snv	4.8E-06; 6.8E-02		2
rs515726227	MSX1	0.925	0.080	4	4863139	frameshift variant	-/TA	delins			2
rs1563183492	AUTS2	0.708	0.520	7	70766248	missense variant	C/T	snv			32
rs929387	GLI3	0.851	0.080	7	41966080	missense variant	G/A;C	snv	0.43; 5.7E-06		4
rs377467108	EZH2	0.882	0.120	7	148827254	missense variant	C/A;T	snv	6.4E-05		3
rs138249161	POLR3B	0.827	0.240	12	106432421	missense variant	T/A	snv	2.7E-04	3.0E-04	8
rs775141057	LOC100287944 ; POLR3B	0.882	0.120	12	106496115	missense variant	C/A;T	snv	4.0E-06	2.1E-05	6
rs4904210	PAX9	0.851	0.080	14	36666548	missense variant	G/C	snv	0.36	0.33	5
rs28933971	PAX9 ; LOC105370455	0.882	0.080	14	36662975	missense variant	G/A;C	snv			3
rs1131692057	LOC105370455 ; PAX9	0.925	0.080	14	36662092	start lost	G/A	snv			2
rs374534090	PAX9 ; LOC105370455	0.925	0.080	14	36663506	missense variant	G/A;C;T	snv	4.2E-06; 4.2E-06		2
rs7143727	PAX9	0.925	0.080	14	36666400	non coding transcript exon variant	G/C	snv		4.7E-02	2
rs754287422	LOC105370455 ; PAX9	0.925	0.080	14	36663308	missense variant	A/G	snv			2