DisGeNET - a database of gene-disease associations

List of associated variants

Scoliosis, unspecified, C0036439

Source: INFERRED ×

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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
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1057520063	GLI3	0.763	0.200	7	41964641	frameshift variant	-/A	delins			13
rs1561898352	CUL7 ; KLC4	0.882	0.200	6	43052582	frameshift variant	-/A	delins			8
rs1553403917	ALMS1	0.807	0.320	2	73451171	frameshift variant	-/A	delins			7
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18
rs886041287	TTN ; TTN-AS1	0.882	0.160	2	178535594	frameshift variant	-/GT	delins			8
rs587776917	ECEL1	0.776	0.200	2	232485937	stop gained	-/T	delins			13
rs1085308052	PTEN	0.851	0.160	10	87952144	frameshift variant	-/T	delins			5
rs200590764		1.000	0.040	10	101216904	intergenic variant	-/T	delins		6.6E-03	1
rs1085307132	SCRIB ; PUF60	0.882	0.160	8	143817668	frameshift variant	-/TTTT	delins			5
rs368900406	MPV17	0.827	0.160	2	27312255	non coding transcript exon variant	A/C	snv	8.0E-06	2.1E-05	27
rs1554208945	ZNF292	0.752	0.240	6	87260207	missense variant	A/C	snv			26
rs1555103652	GRIN2B	0.882	0.240	12	13569973	missense variant	A/C	snv			11
rs772887102	RARS2	0.807	0.200	6	87548623	missense variant	A/C	snv	2.2E-04	2.8E-05	9
rs1567564042	MYH3	0.827	0.120	17	10654924	stop gained	A/C	snv			6
rs12432472	LINC02294 ; LINC02293	1.000	0.040	14	26807959	intron variant	A/C	snv		0.25	1
rs1322331	LBX1	0.925	0.200	10	101226832	3 prime UTR variant	A/C	snv		0.50	1
rs1535462		1.000	0.040	10	101214115	TF binding site variant	A/C;G	snv			1
rs3950032		1.000	0.040	10	101214352	TF binding site variant	A/C;G;T	snv			1
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs1085308004	FBN1	0.807	0.240	15	48425420	missense variant	A/G	snv			9
rs2070074	GALT	0.742	0.360	9	34649445	missense variant	A/G	snv	9.2E-02	7.4E-02	2
rs12432469	LINC02294 ; LINC02293	1.000	0.040	14	26807946	intron variant	A/G	snv		0.24	1
rs1322330	LBX1-AS1	1.000	0.040	10	101231902	intron variant	A/G	snv		0.22	1
rs4684051	CHL1-AS2	1.000	0.040	3	136842	intron variant	A/G	snv		0.34	1