DisGeNET - a database of gene-disease associations

List of associated variants

Uranostaphyloschisis, C2981150

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
rs1558939623	CHN1	0.732	0.480	2	174824479	missense variant	C/T	snv			19
rs121918130	INPP5E	0.716	0.360	9	136433182	missense variant	G/A;T	snv	3.4E-05; 4.2E-06		18
rs864309488	GMNN	0.776	0.440	6	24777296	missense variant	A/G	snv			14
rs140291094	STAC3	0.742	0.320	12	57244322	missense variant	C/G	snv	9.1E-05	3.8E-04	11
rs2235371	IRF6	0.752	0.360	1	209790735	missense variant	C/T	snv	8.7E-02	3.9E-02	11
rs776720232	PGAP3	0.827	0.240	17	39673099	missense variant	T/C;G	snv	4.2E-06		10
rs587777450	PIEZO2	0.790	0.320	18	10671729	missense variant	C/T	snv			9
rs104894110	FOXE1 ; PTCSC2	0.776	0.280	9	97854108	missense variant	C/T	snv			8
rs1064796460	TUBA1A	0.790	0.400	12	49185197	missense variant	C/G;T	snv			8
rs1553630457	TGFBR2	0.882	0.240	3	30674231	missense variant	T/C	snv			8
rs104893810	TGFBR2	0.790	0.360	3	30691477	missense variant	C/T	snv			7
rs1135401746	GNB1	0.827	0.400	1	1806512	missense variant	C/G	snv			7
rs1553155986	SLC2A1	0.827	0.280	1	42929008	missense variant	C/T	snv			6
rs2486668	GRHL3	0.807	0.320	1	24331573	missense variant	C/G	snv	0.16	0.17	6
rs1474322770	NKX2-1 ; NKX2-1-AS1 ; SFTA3	0.827	0.240	14	36519251	missense variant	G/A	snv			5
rs2269529	MYH9 ; MIR6819	0.851	0.200	22	36288308	missense variant	T/C	snv	0.26	0.18	5
rs28935469	FLNA	0.882	0.280	X	154367844	missense variant	G/A	snv			4
rs28937575	FOXE1 ; PTCSC2	0.851	0.280	9	97854084	missense variant	G/A	snv			4
rs28942094	IRF6	0.851	0.400	1	209801398	missense variant	G/A	snv			4
rs146753226	SIX2	0.882	0.200	2	45006255	missense variant	C/T	snv	1.1E-04	4.0E-04	3
rs17010021	LOXL3	0.882	0.200	2	74534412	missense variant	T/A	snv	8.2E-02	4.9E-02	3
rs41268753	GRHL3	0.882	0.200	1	24342967	missense variant	C/T	snv	2.3E-02	2.3E-02	3
rs545809	GRHL3 ; STPG1	0.882	0.200	1	24364274	missense variant	T/A	snv	0.29	0.26	3
rs7205289	WWP2 ; MIR140	0.882	0.200	16	69933102	non coding transcript exon variant	C/A	snv			3
rs201002930	WNT10A	0.827	0.200	2	218889997	synonymous variant	C/T	snv	3.2E-05	7.0E-06	6