DisGeNET - a database of gene-disease associations

List of associated variants

Scoliosis, unspecified, C0036439

Source: CURATED ×

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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
rs2393069	ZWINT	1.000	0.040	10	56359144	intron variant	C/G;T	snv			1
rs1554208945	ZNF292	0.752	0.240	6	87260207	missense variant	A/C	snv			26
rs886041287	TTN ; TTN-AS1	0.882	0.160	2	178535594	frameshift variant	-/GT	delins			8
rs267607144	TRPV4	0.716	0.360	12	109800665	missense variant	C/T	snv			17
rs886040971	TRPS1	0.683	0.280	8	115604339	stop gained	G/A;T	snv			56
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv			73
rs765379963	TMCO1	0.701	0.520	1	165743172	stop gained	G/A	snv	1.2E-05	2.1E-05	19
rs202193096	TBX6	0.925	0.040	16	30089130	missense variant	G/A	snv	2.2E-04	1.0E-04	2
rs1364709483	TBX2-AS1 ; TBX2	0.701	0.360	17	61400235	missense variant	G/A	snv		6.5E-05	36
rs1555735545	STRN4 ; FKRP	0.851	0.160	19	46746071	5 prime UTR variant	G/A	snv			22
rs1114167445	SPTBN4	0.851	0.160	19	40504064	stop gained	C/T	snv	8.0E-06		15
rs875989800	SMARCB1	0.732	0.480	22	23833670	inframe deletion	AGA/-	delins			33
rs1064793575	SLC9A6	0.925	0.040	X	136016706	frameshift variant	GT/-	delins			6
rs431905504	SLC6A3	0.776	0.280	5	1411242	splice donor variant	C/T	snv	6.4E-06		9
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
rs1085307132	SCRIB ; PUF60	0.882	0.160	8	143817668	frameshift variant	-/TTTT	delins			5
rs763944786	RYR1	0.925	0.080	19	38469119	missense variant	C/T	snv	1.2E-05	1.4E-05	5
rs1555939456	RPS6KA3	0.851	0.200	X	20187956	missense variant	T/C	snv			21
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv			35
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35
rs121918274	ROBO3	0.882	0.200	11	124870650	missense variant	G/A;C	snv	1.2E-05; 4.0E-06		1
rs772887102	RARS2	0.807	0.200	6	87548623	missense variant	A/C	snv	2.2E-04	2.8E-05	9