DisGeNET - a database of gene-disease associations

List of shared variants

Microcephaly (physical finding), C4551563

Disease: Micrognathism

Source: ALL

Results per page

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
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv			53
rs61750420	PEX1	0.689	0.480	7	92501562	missense variant	C/T	snv	3.2E-04	3.5E-04	52
rs1569355102	DYRK1A	0.695	0.360	21	37472869	frameshift variant	TAAC/-	delins			51
rs1060499548	ABL1	0.724	0.440	9	130872961	missense variant	G/A	snv			27
rs1554208945	ZNF292	0.752	0.240	6	87260207	missense variant	A/C	snv			26
rs1555731819	KMT2B	0.807	0.200	19	35729980	missense variant	G/T	snv			26
rs28934908	MECP2	0.732	0.280	X	154031409	missense variant	G/A;T	snv	5.5E-06		23
rs886043994	ASXL1	0.776	0.400	20	32433355	frameshift variant	GT/-	delins			21
rs794727931	ALG8	0.790	0.240	11	78112692	missense variant	A/C	snv			19
rs1555565774	EFTUD2	0.807	0.360	17	44862753	frameshift variant	G/-	delins			16
rs1563686762	RAD21 ; UTP23	0.790	0.280	8	116847620	inframe deletion	GTT/-	delins			16
rs782736894	BPTF	0.827	0.280	17	67975841	missense variant	T/C;G	snv	4.0E-06	7.0E-06	16
rs1057518681	PUF60 ; SCRIB	0.827	0.200	8	143816821	splice acceptor variant	T/C	snv			7
rs1553538917	SATB2	0.882	0.120	2	199272423	stop gained	G/A	snv			7
rs1553370918	MYCN	0.851	0.360	2	15945602	frameshift variant	TG/-	delins			6
rs1481733213	ATR	0.851	0.240	3	142568059	splice region variant	T/C	snv			5
rs1553761113	ATR	0.851	0.240	3	142507967	missense variant	C/A	snv			5