DisGeNET - a database of gene-disease associations

List of shared variants

Mosaic variegated aneuploidy syndrome 1, C1850343

Disease: PREMATURE CHROMATID SEPARATION TRAIT

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
rs1392909108	BUB1B ; LOC107984763	0.925	0.040	15	40209697	frameshift variant	-/GTTA	delins	4.0E-06		2
rs1566824771	LOC107984763 ; BUB1B	0.925	0.040	15	40200239	splice region variant	A/G	snv			2
rs1566824774	BUB1B ; LOC107984763	0.925	0.040	15	40200243	splice acceptor variant	G/T	snv			2
rs1566826570	BUB1B ; LOC107984763	0.925	0.040	15	40206280	frameshift variant	T/-	delins			2
rs28989181	LOC107984763 ; BUB1B	0.925	0.040	15	40212643	missense variant	C/T	snv	8.0E-06	2.1E-05	2
rs28989185	LOC107984763 ; PAK6 ; BUB1B ; BUB1B-PAK6	0.925	0.040	15	40220641	missense variant	T/C	snv	2.8E-05	1.4E-05	2
rs28989186	BUB1B ; LOC107984763	0.925	0.040	15	40176672	stop gained	C/T	snv	8.0E-06	7.0E-06	2
rs751421137	LOC107984763 ; BUB1B	0.925	0.040	15	40212488	intron variant	A/G	snv	2.0E-05	2.8E-05	2