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
rs1557036768	HUWE1	0.708	0.320	X	53647390	missense variant	C/T	snv			44
rs55846652		0.776	0.160	X	69564858	downstream gene variant	T/C	snv		0.29	8
rs1392844787	ZNF569	0.925	0.080	19	37413765	missense variant	T/C;G	snv	4.0E-06; 4.0E-06		2
rs121908568	AXIN2	0.807	0.160	17	65536495	stop gained	G/A	snv			9
rs758468472	NOL11 ; LOC101928045	0.776	0.160	17	67718094	splice region variant	G/T	snv			8
rs730882193	AXIN2	0.807	0.200	17	65536472	stop gained	C/G;T	snv			6
rs1567755946	AXIN2	0.925	0.080	17	65537563	frameshift variant	-/CGCGGGAGGCAGC	delins			2
rs752881223	AXIN2	0.925	0.080	17	65558307	missense variant	A/C;G	snv			2
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
rs779059411	PAX9	0.925	0.080	14	36666492	missense variant	A/C;G	snv	8.4E-06		2
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
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
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
rs35956082	FOXP1	0.776	0.160	3	71414748	intron variant	A/C;G	snv			8
rs121908120	WNT10A	0.701	0.280	2	218890289	missense variant	T/A	snv	1.4E-02	1.4E-02	19