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
rs771803303	TGM2	0.882	0.160	20	38148005	missense variant	G/A;C;T	snv	1.6E-05; 4.1E-06		3
rs929387	GLI3	0.851	0.080	7	41966080	missense variant	G/A;C	snv	0.43; 5.7E-06		4
rs777307167	WNT10A	1.000		2	218890128	missense variant	T/C	snv	1.2E-05		1
rs752627281	FGFR1	1.000		8	38419631	missense variant	C/T	snv	2.4E-05	6.3E-05	1
rs140920120	BMP4	0.925	0.080	14	53952099	missense variant	C/A;G	snv	2.8E-04		2
rs121908119	WNT10A ; LOC107984111	0.763	0.200	2	218882368	stop gained	C/A	snv	6.2E-04	8.5E-04	10
rs994158401	MSX1	1.000		4	4860050	missense variant	A/G	snv	1.4E-03	1.7E-04	1
rs147680216	WNT10A	0.742	0.160	2	218890244	missense variant	G/A	snv	2.1E-03	6.9E-04	11
rs1800054	ATM	0.827	0.080	11	108227849	missense variant	C/G;T	snv	7.1E-03		7
rs121908120	WNT10A	0.701	0.280	2	218890289	missense variant	T/A	snv	1.4E-02	1.4E-02	19
rs114632254	EDARADD	1.000		1	236482309	missense variant	C/T	snv	2.1E-02	2.1E-02	1
rs61735045	COL5A1	0.882	0.160	9	134750808	missense variant	G/A	snv	3.5E-02	3.1E-02	3
rs2235371	IRF6	0.752	0.360	1	209790735	missense variant	C/T	snv	8.7E-02	3.9E-02	11
rs11806449	GREM2	1.000		1	240493497	intron variant	G/A	snv	0.21	0.17	1
rs8670	MSX1	0.925	0.080	4	4863149	3 prime UTR variant	C/T	snv	0.22	0.23	4
rs4904210	PAX9	0.851	0.080	14	36666548	missense variant	G/C	snv	0.36	0.33	5
rs17576	MMP9	0.557	0.760	20	46011586	missense variant	A/G	snv	0.39	0.36	73
rs17563	BMP4	0.790	0.320	14	53950804	stop lost	A/G	snv	0.45	0.44	8
rs2240308	AXIN2	0.701	0.360	17	65558473	missense variant	G/A	snv	0.47	0.39	18