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
rs1565864693	MYF5	0.851	0.160	12	80717346	missense variant	C/T	snv			4
rs281865136	EGR2	0.882	0.120	10	62813562	missense variant	C/T	snv			1
rs864622273	EGR2	0.882	0.120	10	62813412	missense variant	C/T	snv	4.0E-06		1
rs267608327	MECP2	0.763	0.200	X	154030631	splice acceptor variant	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-	delins			25
rs61751364	MECP2	0.882	0.120	X	154030944	frameshift variant	CGGAT/-	delins			1
rs1567558314	MYH3	0.807	0.080	17	10643215	intron variant	CTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTT/-	delins			7
rs1561881909	CUL7 ; KLC4	0.925	0.200	6	43044835	frameshift variant	G/-	delins			9
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs1364709483	TBX2-AS1 ; TBX2	0.701	0.360	17	61400235	missense variant	G/A	snv		6.5E-05	36
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv			35
rs113871094	FBN1	0.683	0.320	15	48465820	stop gained	G/A	snv			34
rs199564797	SELENON	0.742	0.360	1	25809150	missense variant	G/A	snv	1.2E-05	1.4E-05	25
rs1555735545	STRN4 ; FKRP	0.851	0.160	19	46746071	5 prime UTR variant	G/A	snv			22
rs587784177	NSD1	0.790	0.280	5	177283827	missense variant	G/A	snv			20
rs587784105	NSD1	0.732	0.440	5	177235863	stop gained	G/A	snv			19
rs765379963	TMCO1	0.701	0.520	1	165743172	stop gained	G/A	snv	1.2E-05	2.1E-05	19
rs112550005	FBN1	0.742	0.240	15	48425829	stop gained	G/A	snv			18
rs727503057	FBN1	0.708	0.280	15	48505106	missense variant	G/A	snv		7.0E-06	16
rs61749721	MECP2	0.732	0.200	X	154031065	stop gained	G/A	snv			15
rs113422242	FBN1	0.763	0.240	15	48510065	stop gained	G/A	snv		7.0E-06	14
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			14
rs797045164	KIF1A	0.851	0.120	2	240785063	missense variant	G/A	snv			8
rs140119177	FAM120AOS	0.851	0.160	9	93447639	missense variant	G/A	snv	6.8E-05	2.2E-04	7