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
rs886039799	BBS9	0.763	0.320	7	33273896	frameshift variant	C/-	del			17
rs886039814	WDR19	0.807	0.200	4	39218060	missense variant	C/G	snv			13
rs886039809	KIAA0586	0.807	0.480	14	58498824	frameshift variant	A/-	del			11
rs886039807	TMEM231	0.776	0.480	16	75541466	non coding transcript exon variant	A/G	snv	4.2E-06		11
rs886039794	LRRCC1 ; LOC105375933	0.851	0.480	8	85109594	splice acceptor variant	G/C	snv			8
rs886039797	BBS2	0.807	0.280	16	56502807	missense variant	A/C	snv	4.0E-06		7
rs786205636	BBS5	0.827	0.320	2	169493750	missense variant	G/A	snv			7
rs886039812	DYNC2H1	0.882	0.160	11	103155395	missense variant	T/G	snv			7
rs764109067	ARL13B	0.851	0.280	3	94036664	missense variant	G/A;T	snv	4.0E-06		6
rs751375244	TRAPPC3	0.827	0.280	1	36139776	missense variant	G/A	snv	1.2E-05	3.5E-05	6
rs886039808	CEP290	0.851	0.480	12	88083848	stop gained	C/T	snv			5
rs886039810	TMEM67	0.851	0.480	8	93809830	missense variant	G/C	snv			5
rs121912732	ATP2A2	0.925	0.080	12	110342430	missense variant	A/G	snv			2
rs121912733	ATP2A2	0.925	0.080	12	110327725	missense variant	G/T	snv			2
rs121912734	ATP2A2	0.925	0.120	12	110339638	missense variant	T/C	snv			2
rs121912736	ATP2A2	0.925	0.080	12	110342435	missense variant	G/A	snv			2
rs121912737	ATP2A2	0.925	0.080	12	110340702	missense variant	C/T	snv			2
rs121912731	ATP2A2	1.000	0.080	12	110292122	stop gained	C/T	snv			1
rs121912738	ATP2A2	1.000	0.080	12	110296666	missense variant	G/A	snv			1
rs1566240208	ATP2A2	1.000	0.080	12	110342388	inframe deletion	ACA/-	delins			1
rs28929478	ATP2A2	1.000	0.080	12	110281857	missense variant	G/A	snv			1