DisGeNET - a database of gene-disease associations

List of associated variants

Hand clenching, C0239815

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
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs200661329	PIGQ	0.708	0.440	16	576255	splice donor variant	G/A;C	snv	5.7E-05		48
rs1554317002	LOC112267983 ; CDK13	0.724	0.440	7	39950821	frameshift variant	C/-	delins			45
rs146539065	SEPSECS	0.752	0.240	4	25145092	synonymous variant	C/T	snv	2.8E-05	4.2E-05	34
rs776969714	SEPSECS	0.752	0.240	4	25145129	splice acceptor variant	-/C	delins		4.2E-05	34
rs1555968941	CACNA1C	0.752	0.280	12	2653847	missense variant	G/A;C	snv			31
rs1553630457	TGFBR2	0.882	0.240	3	30674231	missense variant	T/C	snv			8