DisGeNET - a database of gene-disease associations

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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
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv			73
rs200661329	PIGQ	0.708	0.440	16	576255	splice donor variant	G/A;C	snv	5.7E-05		48
rs1232880706	FBN1	0.689	0.440	15	48526247	stop gained	C/A;T	snv			36
rs875989800	SMARCB1	0.732	0.480	22	23833670	inframe deletion	AGA/-	delins			33
rs267607093	SRD5A3	0.851	0.160	4	55359444	stop gained	G/A	snv	4.0E-06		14
rs868064163	ACTL6A	1.000	0.040	3	179586552	missense variant	C/T	snv		7.0E-06	13
rs1554781700	COL5A1	0.851	0.240	9	134701287	missense variant	G/T	snv			12
rs886041239	SMC3	1.000	0.160	10	110593202	missense variant	A/G	snv			9
rs886039900	AHDC1	0.925	0.320	1	27549887	frameshift variant	C/-	delins			8
rs143044921	FREM2	0.827	0.280	13	38691375	missense variant	G/A;T	snv	3.5E-03		8
rs1553630457	TGFBR2	0.882	0.240	3	30674231	missense variant	T/C	snv			8
rs863224493	NF1	0.925	0.120	17	31352281	stop gained	G/A	snv			7
rs61729366	FRAS1	0.851	0.240	4	78511299	missense variant	G/A	snv	5.2E-03	5.8E-03	6
rs1057518909	FBN1	0.925	0.120	15	48534099	frameshift variant	CATT/-	delins			5
rs138385391	USP26			X	133026484	missense variant	C/T	snv	4.5E-03	3.2E-03	2
rs35397110	USP26			X	133027131	missense variant	G/A;T	snv	3.8E-02		2
rs3809060	WT1-AS ; WT1			11	32437261	intron variant	G/T	snv		0.49	2
rs2009262				2	55785079	intergenic variant	T/C	snv		0.19	1
rs6991952	EBF2 ; LOC102723395			8	25849896	intron variant	A/G	snv		0.49	1
rs370763	LOC107986419			5	65059233	intergenic variant	T/A	snv		0.66	1