DisGeNET - a database of gene-disease associations

List of associated variants

Agenesis, C0000846

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
rs121908119	WNT10A ; LOC107984111	0.763	0.200	2	218882368	stop gained	C/A	snv	6.2E-04	8.5E-04	10
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
rs116998555	WNT10A	0.882	0.080	2	218890118	missense variant	C/A;T	snv	4.0E-06; 1.9E-03		3
rs777307167	WNT10A	1.000		2	218890128	missense variant	T/C	snv	1.2E-05		1
rs771803303	TGM2	0.882	0.160	20	38148005	missense variant	G/A;C;T	snv	1.6E-05; 4.1E-06		3
rs1315861554	TGIF1	0.925	0.120	18	3457392	missense variant	C/T	snv	4.0E-06		2
rs11001553	PRKG1-AS1 ; DKK1	0.925	0.080	10	52313141	intron variant	C/T	snv		0.12	2
rs28933970	PAX9 ; LOC105370455	0.925	0.080	14	36662954	missense variant	T/C	snv			2
rs4904210	PAX9	0.851	0.080	14	36666548	missense variant	G/C	snv	0.36	0.33	5
rs12532	MSX1	0.790	0.200	4	4863419	3 prime UTR variant	A/G	snv		0.36	10
rs8670	MSX1	0.925	0.080	4	4863149	3 prime UTR variant	C/T	snv	0.22	0.23	4
rs1095	MSX1	0.925	0.080	4	4863211	3 prime UTR variant	C/T	snv		1.5E-02	2
rs994158401	MSX1	1.000		4	4860050	missense variant	A/G	snv	1.4E-03	1.7E-04	1
rs17576	MMP9	0.557	0.760	20	46011586	missense variant	A/G	snv	0.39	0.36	73
rs243865	MMP2	0.600	0.640	16	55477894	intron variant	C/T	snv		0.19	48
rs2252070	MMP13	0.752	0.320	11	102955810	upstream gene variant	C/T	snv		0.68	13
rs104894469	LOC105370455 ; PAX9	0.925	0.080	14	36663043	missense variant	G/A;T	snv	4.0E-06		2
rs7802	IRF6 ; C1orf74	1.000		1	209785814	3 prime UTR variant	A/G	snv		7.0E-04	1
rs2235371	IRF6	0.752	0.360	1	209790735	missense variant	C/T	snv	8.7E-02	3.9E-02	11
rs861019	IRF6	0.925	0.120	1	209802041	splice region variant	A/G	snv		0.44	2
rs17015215	IRF6	1.000		1	209790735	missense variant	C/T	snv			1
rs2268626	IFT43 ; TGFB3	1.000		14	75978424	intron variant	C/T	snv		0.80	1
rs11806449	GREM2	1.000		1	240493497	intron variant	G/A	snv	0.21	0.17	1
rs929387	GLI3	0.851	0.080	7	41966080	missense variant	G/A;C	snv	0.43; 5.7E-06		4