DisGeNET - a database of gene-disease associations

List of shared variants

Global developmental delay, C0557874

Disease: Ventricular Septal Defects

Source: INFERRED ×

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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
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		35
rs121918455	PTPN11	0.695	0.440	12	112477720	missense variant	A/C;G	snv			31
rs142239530	STIM1	0.790	0.320	11	4091328	missense variant	C/G;T	snv	4.4E-05		24
rs1555565774	EFTUD2	0.807	0.360	17	44862753	frameshift variant	G/-	delins			16
rs1557612048	ARID1A	0.807	0.200	1	26767868	missense variant	T/C	snv			11
rs746800707	AAR2	0.851	0.160	20	36240388	missense variant	G/A;C;T	snv	1.2E-05; 4.0E-06		8
rs1554643168	PUF60	0.851	0.160	8	143818077	splice acceptor variant	T/C;G	snv			7
rs1114167294	FOXP4	0.925		6	41587455	frameshift variant	T/-	del			4