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
rs4954218	MAP3K19	0.925	0.080	2	135045855	intron variant	G/T	snv		0.83	5
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs2236225	MTHFD1	0.614	0.640	14	64442127	missense variant	G/A	snv	0.44	0.38	52
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs7650466	EPHA3	0.851	0.200	3	89481208	3 prime UTR variant	C/T	snv		0.23	7
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs806368	CNR1	0.752	0.280	6	88140381	3 prime UTR variant	T/C	snv		0.19	14
rs12720071	CNR1	0.807	0.200	6	88141462	3 prime UTR variant	T/C	snv		0.11	7
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs57865060	CYP1B1-AS1 ; CYP1B1	0.827	0.160	2	38074704	missense variant	C/T	snv	1.1E-02	5.7E-03	6
rs79204362	CYP1B1	0.763	0.120	2	38071251	missense variant	C/T	snv	5.8E-03	1.7E-03	10
rs104894232	HYLS1 ; PUS3	0.925	0.160	11	125900000	missense variant	A/G	snv	1.1E-03	1.0E-03	4
rs121912974	POR	0.882	0.240	7	75983548	missense variant	G/C	snv	2.4E-04	2.2E-04	4
rs142322800	FCGR3A			1	161548502	missense variant	T/C	snv	1.5E-04	5.6E-05	1
rs527236031	PIGT ; MIR6812	0.882	0.080	20	45424323	missense variant	C/T	snv	1.6E-05	4.2E-05	5
rs1359880314	SLC19A1	0.763	0.320	21	45534541	synonymous variant	C/T	snv	1.6E-05	2.8E-05	12
rs745616565	FTO	1.000	0.200	16	53873855	missense variant	G/A	snv	1.6E-05	2.1E-05	3
rs1052108705	TCF19 ; POU5F1			6	31165217	missense variant	C/T	snv	4.1E-06	2.1E-05	3
rs769269532	SOX9-AS1 ; SOX9	1.000	0.040	17	72124262	missense variant	A/G	snv	2.4E-05	1.4E-05	2
rs121909173	HESX1	0.851	0.240	3	57199901	missense variant	C/G	snv	2.8E-05	1.4E-05	5
rs774753616	PIGT ; LOC107985405	1.000		20	45419351	missense variant	G/A	snv	1.2E-05	1.4E-05	3
rs121918214	FTO	1.000	0.200	16	53873837	missense variant	G/A	snv	4.0E-06	7.0E-06	3
rs756434709	NOTCH1			9	136514670	missense variant	C/T	snv	2.0E-05	7.0E-06	2
rs756632799	LOC107985405 ; PIGT	0.882	0.080	20	45416579	stop gained	G/T	snv	1.6E-05	7.0E-06	5