DisGeNET - a database of gene-disease associations

List of associated variants

Scoliosis, unspecified, C0036439

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
rs267607261	MPV17	0.807	0.280	2	27312753	stop gained	C/T	snv	8.0E-06		28
rs368900406	MPV17	0.827	0.160	2	27312255	non coding transcript exon variant	A/C	snv	8.0E-06	2.1E-05	27
rs1555731819	KMT2B	0.807	0.200	19	35729980	missense variant	G/T	snv			26
rs1554208945	ZNF292	0.752	0.240	6	87260207	missense variant	A/C	snv			26
rs267608327	MECP2	0.763	0.200	X	154030631	splice acceptor variant	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-	delins			25
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
rs864321670	ALDH18A1	0.763	0.320	10	95633012	missense variant	C/T	snv			24
rs137854466	FBN1	0.724	0.320	15	48411280	stop gained	G/A;C	snv	4.0E-05; 8.0E-06		23
rs1555735545	STRN4 ; FKRP	0.851	0.160	19	46746071	5 prime UTR variant	G/A	snv			22
rs1557055405	ABCD1	0.807	0.400	X	153743532	missense variant	T/A	snv			21
rs1555939456	RPS6KA3	0.851	0.200	X	20187956	missense variant	T/C	snv			21
rs1441937959	EFL1	0.763	0.280	15	82240555	missense variant	T/C	snv	8.2E-06		20
rs587784177	NSD1	0.790	0.280	5	177283827	missense variant	G/A	snv			20
rs61750240	MECP2	0.752	0.240	X	154031020	stop gained	G/A;C	snv	5.5E-06		19
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
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18
rs797045412	BICD2	0.776	0.280	9	92718565	missense variant	G/A;T	snv			17
rs797044849	GRIN2B	0.807	0.160	12	13567164	missense variant	C/A;G;T	snv	4.0E-06		17
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			17
rs61749721	MECP2	0.732	0.200	X	154031065	stop gained	G/A	snv			17
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