DisGeNET - a database of gene-disease associations

List of associated variants

Atrial Septal Defects, C0018817

Source: CLINVAR ×

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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
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
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv			54
rs1364709483	TBX2-AS1 ; TBX2	0.701	0.360	17	61400235	missense variant	G/A	snv		6.5E-05	36
rs1060499548	ABL1	0.724	0.440	9	130872961	missense variant	G/A	snv			27
rs142239530	STIM1	0.790	0.320	11	4091328	missense variant	C/G;T	snv	4.4E-05		24
rs1555429629	RAD51	0.763	0.200	15	40729632	missense variant	G/A	snv			23
rs527656756	MTA3 ; HAAO	0.716	0.400	2	42770143	frameshift variant	-/A	delins	1.7E-05	1.4E-05	21
rs387906846	ARID1A	0.807	0.280	1	26773716	stop gained	C/G;T	snv			19
rs121908557	SCN4A ; LOC105371858	0.752	0.280	17	63957514	missense variant	C/T	snv	8.2E-06	1.4E-05	19
rs1553154130	RERE	0.807	0.280	1	8358231	missense variant	T/A;C	snv			18
rs1553284997	DIPK1A ; RPL5	0.790	0.400	1	92833544	splice acceptor variant	G/C	snv			17
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
rs149830411	KANSL1	0.827	0.360	17	46171276	stop gained	G/A	snv	5.2E-05	5.6E-05	15
rs730881014	RIT1	0.776	0.360	1	155904494	stop gained	A/C;G;T	snv			15
rs141322087	ABCC8	0.851	0.160	11	17404552	missense variant	C/T	snv	1.2E-05	2.1E-05	13
rs868064163	ACTL6A	1.000	0.040	3	179586552	missense variant	C/T	snv		7.0E-06	13
rs267607079	SOS1	0.776	0.240	2	39022772	missense variant	C/A;G	snv			13
rs1344172059	ABCC8	0.882	0.080	11	17430838	missense variant	C/T	snv		7.0E-06	12
rs121913528	KRAS	0.851	0.160	12	25227349	missense variant	C/A;T	snv			11
rs1563595095	CHD7	0.776	0.320	8	60781285	frameshift variant	AA/T	delins			10
rs1567263168	CREBBP	0.851	0.240	16	3729444	missense variant	C/T	snv			10
rs369634007	TMEM87B	0.882	0.080	2	112098688	missense variant	A/G	snv	1.6E-05	2.1E-05	10