DisGeNET - a database of gene-disease associations

List of associated variants

Ventricular Septal Defects, C0018818

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv			73
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		37
rs121918455	PTPN11	0.695	0.440	12	112477720	missense variant	A/C;G	snv			31
rs1294950721	JAG1	0.807	0.360	20	10645355	splice donor variant	C/A;T	snv		7.0E-06	27
rs142239530	STIM1	0.790	0.320	11	4091328	missense variant	C/G;T	snv	4.4E-05		24
rs121908557	SCN4A ; LOC105371858	0.752	0.280	17	63957514	missense variant	C/T	snv	8.2E-06	1.4E-05	23
rs12190287	TCF21	0.708	0.280	6	133893387	3 prime UTR variant	C/G;T	snv			19
rs912001256	SCN4A	0.851	0.240	17	63947062	stop gained	G/A	snv			17
rs759125480	CEP120	0.827	0.160	5	123377409	stop gained	G/A	snv	1.6E-05		16
rs1555565774	EFTUD2	0.807	0.360	17	44862753	frameshift variant	G/-	delins			16
rs483352822	RIT1	0.776	0.360	1	155904470	stop lost	C/A;G;T	snv			16
rs121918466	PTPN11	0.752	0.280	12	112450416	missense variant	A/G	snv			14
rs1057518914	RPS6KA3	0.790	0.160	X	20193547	missense variant	G/C	snv			14
rs2277923	NKX2-5	0.752	0.160	5	173235021	synonymous variant	T/C	snv	0.41	0.44	13
rs180177039	BRAF	0.851	0.160	7	140778006	missense variant	T/A;C;G	snv			12
rs1555038029	KMT2A	0.776	0.400	11	118477973	stop gained	C/A	snv			12
rs1532268	MTRR	0.776	0.280	5	7878066	missense variant	C/T	snv	0.31	0.32	12
rs1557612048	ARID1A	0.807	0.200	1	26767868	missense variant	T/C	snv			11
rs7830	NOS3 ; ATG9B	0.763	0.320	7	151012483	3 prime UTR variant	G/T	snv	0.38	0.32	11