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
rs2281894	CELSR2	1.000	0.040	1	109267922	synonymous variant	C/A	snv	0.22	0.17	1
rs2070074	GALT	0.742	0.360	9	34649445	missense variant	A/G	snv	9.2E-02	7.4E-02	12
rs28937900	FKRP	0.752	0.160	19	46756276	missense variant	C/A;T	snv	1.0E-03		37
rs772887102	RARS2	0.807	0.200	6	87548623	missense variant	A/C	snv	2.2E-04	2.8E-05	9
rs202193096	TBX6	0.925	0.040	16	30089130	missense variant	G/A	snv	2.2E-04	1.0E-04	2
rs121908188	SELENON	0.742	0.360	1	25809753	missense variant	G/A;C	snv	1.8E-04		25
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs201943194	DNAH11	0.683	0.480	7	21710596	stop gained	C/T	snv	8.5E-05	8.4E-05	38
rs140119177	FAM120AOS	0.851	0.160	9	93447639	missense variant	G/A	snv	6.8E-05	2.2E-04	7
rs751819844	HGF	1.000	0.040	7	81705724	missense variant	G/A	snv	6.4E-05	2.8E-05	1
rs137854466	FBN1	0.724	0.320	15	48411280	stop gained	G/A;C	snv	4.0E-05; 8.0E-06		23
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
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs61751362	MECP2	0.790	0.160	X	154030948	stop gained	G/A;C	snv	1.6E-05		14
rs727503054	FBN1	0.732	0.200	15	48420752	missense variant	A/G;T	snv	1.6E-05		15
rs781417096	RARS2	0.807	0.200	6	87514995	frameshift variant	T/-	delins	1.6E-05	7.0E-06	9
rs121918274	ROBO3	0.882	0.200	11	124870650	missense variant	G/A;C	snv	1.2E-05; 4.0E-06		3
rs199564797	SELENON	0.742	0.360	1	25809150	missense variant	G/A	snv	1.2E-05	1.4E-05	25
rs765379963	TMCO1	0.701	0.520	1	165743172	stop gained	G/A	snv	1.2E-05	2.1E-05	19
rs763944786	RYR1	0.925	0.080	19	38469119	missense variant	C/T	snv	1.2E-05	1.4E-05	5
rs28937581	DYSF	0.827	0.160	2	71570300	missense variant	G/T	snv	1.2E-05		9
rs1441937959	EFL1	0.763	0.280	15	82240555	missense variant	T/C	snv	8.2E-06		20
rs1114167445	SPTBN4	0.851	0.160	19	40504064	stop gained	C/T	snv	8.0E-06		15
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