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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs150129663	ACO2	22	41518528	missense variant	C/T	snv	1.6E-05	2.1E-05	1
rs1555890974	ACO2 ; POLR3H	22	41527919	frameshift variant	AG/-	del			1
rs779340209	ADNP	20	50892501	stop gained	G/C	snv			1
rs1554380093	AP4M1	7	100105098	missense variant	G/A	snv			1
rs1553245178	ATP1A2	1	160130548	missense variant	G/A	snv			1
rs200891944	ATP1A3	19	41981976	missense variant	C/A;T	snv			1
rs1553597538	BCS1L	2	218662571	frameshift variant	CT/-	delins			1
rs1131691712	CACNA1A	19	13286952	frameshift variant	-/A	delins	4.2E-06		1
rs1553676901	CACNA1D	3	53776046	splice donor variant	G/C	snv			1
rs1554314738	CCN6	6	112069431	frameshift variant	-/C	delins			1
rs1555302735	COL4A1	13	110173899	splice donor variant	C/T	snv			1
rs750451693	CP	3	149210191	missense variant	C/T	snv	1.6E-05	2.1E-05	1
rs1554008611	CTNND2	5	11236825	splice acceptor variant	T/C	snv			1
rs1556213001	CUL4B	X	120544122	stop gained	C/A	snv			1
rs1555911098	EP300	22	41168719	splice acceptor variant	A/G	snv			1
rs1161032867	FUS	16	31191070	frameshift variant	G/-;GGGG	delins			1
rs1555511101	GAN	16	81354554	stop gained	C/G	snv			1
rs1554216308	HDAC3	5	141626221	missense variant	T/C	snv			1
rs1387003933	HIKESHI	11	86306378	missense variant	A/G	snv	8.0E-06		1
rs1554086554	KCNN2	5	114404815	inframe deletion	TAT/-	delins			1
rs1554397774	KCTD7	7	66633273	splice acceptor variant	A/G	snv			1
rs201296399	KCTD7	7	66633320	missense variant	A/G	snv	5.6E-05	4.9E-05	1
rs1553637932	KIF1A	2	240783109	missense variant	C/T	snv			1
rs1553638309	KIF1A	2	240785068	missense variant	C/T	snv			1
rs1555729045	KMT2B	19	35721772	stop gained	C/T	snv			1