DisGeNET - a database of gene-disease associations

List of associated variants

Congenital Abnormality, C0000768

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
rs746147592	SRPX2	1.000	0.160	X	100665627	missense variant	G/A;C	snv	5.5E-06		2
rs1801198	TCN2	0.677	0.400	22	30615623	missense variant	G/A;C	snv	5.6E-05; 0.57		26
rs764120087	EP300			22	41117439	missense variant	G/A	snv	8.0E-06		2
rs775144154	SLC19A1	0.627	0.600	21	45531904	missense variant	C/A;T	snv	9.7E-06; 1.4E-05		38
rs368087026	SLC19A1	0.637	0.520	21	45530890	missense variant	G/A	snv			33
rs1359880314	SLC19A1	0.763	0.320	21	45534541	synonymous variant	C/T	snv	1.6E-05	2.8E-05	12
rs527236031	PIGT ; MIR6812	0.882	0.080	20	45424323	missense variant	C/T	snv	1.6E-05	4.2E-05	5
rs756632799	LOC107985405 ; PIGT	0.882	0.080	20	45416579	stop gained	G/T	snv	1.6E-05	7.0E-06	5
rs774753616	PIGT ; LOC107985405	1.000		20	45419351	missense variant	G/A	snv	1.2E-05	1.4E-05	3
rs757956956	GPI			19	34377533	missense variant	A/G	snv	4.0E-06		1
rs587777186	PIGN	0.925		18	62146023	missense variant	A/G;T	snv			3
rs769269532	SOX9-AS1 ; SOX9	1.000	0.040	17	72124262	missense variant	A/G	snv	2.4E-05	1.4E-05	2
rs121918214	FTO	1.000	0.200	16	53873837	missense variant	G/A	snv	4.0E-06	7.0E-06	3
rs745616565	FTO	1.000	0.200	16	53873855	missense variant	G/A	snv	1.6E-05	2.1E-05	3
rs781028867	FTO	1.000	0.200	16	53873846	missense variant	C/A;T	snv	4.0E-06		3
rs1057519320	FBN1	0.807	0.160	15	48444574	missense variant	G/A	snv			7
rs2236225	MTHFD1	0.614	0.640	14	64442127	missense variant	G/A	snv	0.44	0.38	52
rs121918355	LTBP2	0.807	0.280	14	74555629	stop gained	G/A;T	snv	2.1E-05; 4.2E-06		7
rs80338852	B3GLCT	0.925	0.200	13	31317599	stop gained	T/A;C	snv	8.0E-06		3
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs104894378	TBX5	0.882	0.120	12	114385521	missense variant	C/G;T	snv			6
rs104894381	TBX5	0.925	0.120	12	114401830	missense variant	C/T	snv			5
rs201968272	DDX11	0.925	0.160	12	31089147	missense variant	G/A	snv			3
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs587777108	ATL3 ; LOC107984336	0.925	0.080	11	63646550	missense variant	T/C	snv			5