DisGeNET - a database of gene-disease associations

List of associated variants

Disproportionate tall stature, C1836996

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
rs137854466	FBN1	0.724	0.320	15	48411280	stop gained	G/A;C	snv	4.0E-05; 8.0E-06		23
rs587784105	NSD1	0.732	0.440	5	177235863	stop gained	G/A	snv			19
rs112550005	FBN1	0.742	0.240	15	48425829	stop gained	G/A	snv			18
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18
rs111854391	TGFBR1	0.716	0.280	9	99138006	stop gained	C/A;T	snv	4.0E-06		18
rs113422242	FBN1	0.763	0.240	15	48510065	stop gained	G/A	snv		7.0E-06	14
rs1555397413	FBN1	0.732	0.280	15	48470705	missense variant	T/C	snv			13
rs142110773	FIGNL1 ; DDC	0.882	0.160	7	50463317	missense variant	G/A	snv	1.6E-05	7.0E-06	13
rs137854461	FBN1	0.790	0.280	15	48437026	missense variant	T/C	snv			12
rs113812345	FBN1	0.790	0.160	15	48513591	stop gained	G/A	snv			10
rs1555398397	FBN1	0.807	0.240	15	48485436	missense variant	C/T	snv			10
rs397515789	FBN1	0.776	0.240	15	48488112	splice donor variant	C/A;T	snv			10
rs1085308004	FBN1	0.807	0.240	15	48425420	missense variant	A/G	snv			9
rs761857514	FBN1	0.851	0.240	15	48452676	stop gained	C/A;T	snv	4.0E-06		8
rs771487311	DYNC2H1	0.882	0.120	11	103255530	missense variant	T/C	snv	1.9E-05	7.0E-05	5
rs759549373	DYNC2H1	0.925	0.080	11	103253342	missense variant	G/A;T	snv	6.0E-05; 4.0E-06		4
rs863223722	SKI	1.000	0.160	1	2229305	missense variant	C/A;T	snv			2