DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Scoliosis, unspecified ×

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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
rs727503054	FBN1	0.732	0.200	15	48420752	missense variant	A/G;T	snv	1.6E-05		15
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			14
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs1009298200	ALG1	0.742	0.400	16	5079077	missense variant	C/G;T	snv		7.0E-06	34
rs1555452127	ALG1	0.742	0.400	16	5079078	missense variant	T/C	snv			34
rs121908188	SELENON	0.742	0.360	1	25809753	missense variant	G/A;C	snv	1.8E-04		25
rs199564797	SELENON	0.742	0.360	1	25809150	missense variant	G/A	snv	1.2E-05	1.4E-05	25
rs745886248	SELENON	0.742	0.360	1	25811710	missense variant	G/A;C;T	snv	4.3E-06; 4.3E-06; 4.3E-06		25
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
rs774277300	MRE11	0.742	0.360	11	94447276	stop gained	G/A;C;T	snv	2.8E-05; 4.0E-05; 4.0E-06		17
rs2070074	GALT	0.742	0.360	9	34649445	missense variant	A/G	snv	9.2E-02	7.4E-02	1
rs1569518070	COL6A1	0.752	0.480	21	45989088	inframe deletion	AAC/-	del			33
rs28937900	FKRP	0.752	0.160	19	46756276	missense variant	C/A;T	snv	1.0E-03		33
rs1555968941	CACNA1C	0.752	0.280	12	2653847	missense variant	G/A;C	snv			31
rs1554208945	ZNF292	0.752	0.240	6	87260207	missense variant	A/C	snv			26
rs61750240	MECP2	0.752	0.240	X	154031020	stop gained	G/A;C	snv	5.5E-06		17
rs267608327	MECP2	0.763	0.200	X	154030631	splice acceptor variant	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-	delins			25
rs864321670	ALDH18A1	0.763	0.320	10	95633012	missense variant	C/T	snv			24
rs1441937959	EFL1	0.763	0.280	15	82240555	missense variant	T/C	snv	8.2E-06		19
rs113422242	FBN1	0.763	0.240	15	48510065	stop gained	G/A	snv		7.0E-06	14
rs1057520063	GLI3	0.763	0.200	7	41964641	frameshift variant	-/A	delins			13
rs797045412	BICD2	0.776	0.280	9	92718565	missense variant	G/A;T	snv			17
rs587776917	ECEL1	0.776	0.200	2	232485937	stop gained	-/T	delins			13
rs869320624	EMC1-AS1 ; EMC1	0.776	0.400	1	19220814	frameshift variant	AAGG/-	delins		1.4E-05	13