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
rs140119177	FAM120AOS	0.851	0.160	9	93447639	missense variant	G/A	snv	6.8E-05	2.2E-04	7
rs1085307132	SCRIB ; PUF60	0.882	0.160	8	143817668	frameshift variant	-/TTTT	delins			5
rs1085308052	PTEN	0.851	0.160	10	87952144	frameshift variant	-/T	delins			5
rs1555682265	DCC	0.851	0.160	18	52923796	frameshift variant	TTTCTGG/-	delins			5
rs1555216163	MYF5	0.851	0.160	12	80717084	frameshift variant	AGTTCTCACC/-	delins			4
rs1565864693	MYF5	0.851	0.160	12	80717346	missense variant	C/T	snv			4
rs1057519320	FBN1	0.807	0.160	15	48444574	missense variant	G/A	snv			3
rs1057519321	FBN2	0.807	0.160	5	128349391	missense variant	C/A;T	snv			3
rs28937581	DYSF	0.827	0.160	2	71570300	missense variant	G/T	snv	1.2E-05		2
rs1555731819	KMT2B	0.807	0.200	19	35729980	missense variant	G/T	snv			26
rs267608327	MECP2	0.763	0.200	X	154030631	splice acceptor variant	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-	delins			25
rs1555939456	RPS6KA3	0.851	0.200	X	20187956	missense variant	T/C	snv			21
rs61749721	MECP2	0.732	0.200	X	154031065	stop gained	G/A	snv			15
rs727503054	FBN1	0.732	0.200	15	48420752	missense variant	A/G;T	snv	1.6E-05		15
rs1057520063	GLI3	0.763	0.200	7	41964641	frameshift variant	-/A	delins			13
rs1561892336	CUL7 ; KLC4	0.807	0.200	6	43050050	stop gained	C/T	snv			13
rs587776917	ECEL1	0.776	0.200	2	232485937	stop gained	-/T	delins			13
rs1561881909	CUL7 ; KLC4	0.925	0.200	6	43044835	frameshift variant	G/-	delins			9
rs772887102	RARS2	0.807	0.200	6	87548623	missense variant	A/C	snv	2.2E-04	2.8E-05	9
rs781417096	RARS2	0.807	0.200	6	87514995	frameshift variant	T/-	delins	1.6E-05	7.0E-06	9
rs1561898352	CUL7 ; KLC4	0.882	0.200	6	43052582	frameshift variant	-/A	delins			8
rs121918274	ROBO3	0.882	0.200	11	124870650	missense variant	G/A;C	snv	1.2E-05; 4.0E-06		1
rs1554208945	ZNF292	0.752	0.240	6	87260207	missense variant	A/C	snv			26
rs112550005	FBN1	0.742	0.240	15	48425829	stop gained	G/A	snv			18
rs61750240	MECP2	0.752	0.240	X	154031020	stop gained	G/A;C	snv	5.5E-06		17