DisGeNET - a database of gene-disease associations

List of shared variants

Global developmental delay, C0557874

Disease: Anteverted nostril

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
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv			54
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs1555154946	ARID2 ; LOC105369745	0.827	0.120	12	45850644	stop gained	C/T	snv			16
rs1555565774	EFTUD2	0.807	0.360	17	44862753	frameshift variant	G/-	delins			16
rs397517154	SOS1	0.763	0.280	2	39022773	missense variant	C/A;G;T	snv	4.0E-06		15
rs1057518864	TCF4	0.925		18	55350409	splice acceptor variant	C/T	snv			7
rs1057518913	EHMT1	0.851	0.320	9	137762822	splice donor variant	T/C	snv			7