DisGeNET - a database of gene-disease associations

List of associated variants

Acromicric Dysplasia, C0265287

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
rs111401431	FBN1	0.763	0.200	15	48468097	missense variant	G/A	snv			9
rs111984349	FBN1	0.763	0.200	15	48415759	missense variant	C/T	snv			9
rs1131691804	FBN1	0.807	0.200	15	48463123	missense variant	G/A	snv			8
rs1131692052	FBN1	1.000	0.080	15	48460292	missense variant	A/C	snv			1
rs113543334	FBN1	0.763	0.200	15	48432944	missense variant	A/G	snv			9
rs113871094	FBN1	0.683	0.320	15	48465820	stop gained	G/A	snv			34
rs1177684571	EGF	1.000	0.080	4	109976199	missense variant	G/C;T	snv	4.0E-06		1
rs1323910952	LTBP3	1.000	0.080	11	65546882	missense variant	C/A	snv			1
rs137854480	FBN1	0.742	0.200	15	48537629	missense variant	G/A	snv			11
rs140583	FBN1	0.763	0.200	15	48495219	stop gained	G/A	snv			9
rs1554974135	LTBP3	0.925	0.080	11	65547459	missense variant	G/C	snv			2
rs1555397413	FBN1	0.732	0.280	15	48470705	missense variant	T/C	snv			13
rs1555397718	FBN1	0.776	0.200	15	48474566	missense variant	C/A;T	snv			8
rs1555400373	FBN1	0.763	0.200	15	48515393	missense variant	A/G	snv			9
rs1566899590	FBN1	0.776	0.200	15	48448894	splice acceptor variant	C/T	snv			8
rs1566911957	FBN1	0.776	0.200	15	48496204	frameshift variant	GTACACATTCA/-	delins			8
rs193922185	FBN1	0.752	0.200	15	48505037	missense variant	G/A	snv			10
rs193922204	FBN1	0.763	0.200	15	48468542	splice region variant	C/T	snv	4.0E-06	7.0E-06	9
rs193922228	FBN1	0.763	0.200	15	48430736	missense variant	A/G	snv		7.0E-06	9
rs387906622	FBN1	0.925	0.080	15	48463210	missense variant	T/C	snv			2
rs387906624	FBN1	0.925	0.080	15	48463124	missense variant	C/T	snv			2
rs387906626	FBN1	1.000	0.080	15	48463207	missense variant	T/C	snv			1
rs397515757	FBN1	0.752	0.200	15	48515382	splice region variant	C/T	snv			10
rs587776863	FBN1	1.000	0.080	15	48463101	inframe insertion	-/GTT	delins			1
rs71467648	FBN1	0.776	0.200	15	48437898	stop gained	A/C;T	snv			8