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
rs121918274	ROBO3	0.882	0.200	11	124870650	missense variant	G/A;C	snv	1.2E-05; 4.0E-06		3
rs965084	CHL1-AS2 ; LOC107986057	1.000	0.040	3	125415	intron variant	G/C	snv		0.31	1
rs1057519321	FBN2	0.807	0.160	5	128349391	missense variant	C/A;T	snv			7
rs1400182	LOC107986057 ; CHL1-AS2	1.000	0.040	3	128928	intron variant	C/G;T	snv			1
rs1400180	CHL1-AS2 ; LOC107986057	1.000	0.040	3	129285	intron variant	T/G	snv		0.37	1
rs7639674	LOC107986057 ; CHL1-AS2	1.000	0.040	3	130837	non coding transcript exon variant	A/T	snv		0.31	1
rs17326792	CHL1-AS2 ; LOC107986057	1.000	0.040	3	131073	non coding transcript exon variant	A/G;T	snv			1
rs1060505041	NACC1	0.716	0.400	19	13136099	missense variant	C/A;T	snv			34
rs1564341846	POMT1	0.790	0.280	9	131508926	missense variant	C/A	snv			8
rs797044849	GRIN2B	0.807	0.160	12	13567164	missense variant	C/A;G;T	snv	4.0E-06		17
rs1555103652	GRIN2B	0.882	0.240	12	13569973	missense variant	A/C	snv			11
rs1064793575	SLC9A6	0.925	0.040	X	136016706	frameshift variant	GT/-	delins			6
rs4684051	CHL1-AS2	1.000	0.040	3	136842	intron variant	A/G	snv		0.34	1
rs1568097	CHL1-AS2	1.000	0.040	3	138468	intron variant	T/C	snv		0.42	1
rs431905504	SLC6A3	0.776	0.280	5	1411242	splice donor variant	C/T	snv	6.4E-06		9
rs1588962	CHL1-AS2	1.000	0.040	3	142352	intron variant	T/C	snv		0.32	1
rs6570507	ADGRG6	0.827	0.240	6	142358435	intron variant	G/A	snv		0.47	13
rs1085307132	SCRIB ; PUF60	0.882	0.160	8	143817668	frameshift variant	-/TTTT	delins			5
rs10510181	CHL1-AS2	0.882	0.200	3	149364	intron variant	G/A	snv		0.31	4
rs1557055405	ABCD1	0.807	0.400	X	153743532	missense variant	T/A	snv			21
rs267608327	MECP2	0.763	0.200	X	154030631	splice acceptor variant	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-	delins			25
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			17
rs61751364	MECP2	0.882	0.120	X	154030944	frameshift variant	CGGAT/-	delins			4
rs61751362	MECP2	0.790	0.160	X	154030948	stop gained	G/A;C	snv	1.6E-05		14
rs61750240	MECP2	0.752	0.240	X	154031020	stop gained	G/A;C	snv	5.5E-06		19