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	Num. diseases
rs1553706324	SCN5A	3	38614067	splice acceptor variant	C/G	snv	1
rs1553862987	SOX2 ; SOX2-OT	3	181712694	missense variant	C/G	snv	1
rs1553961697	ZEB2	2	144399650	frameshift variant	G/-	del	1
rs1554231814	ARID1B	6	157184262	frameshift variant	C/-	del	1
rs1554274371	HIVEP2	6	142753484	stop gained	G/A	snv	1
rs1554603550	CHD7	8	60850514	missense variant	T/G	snv	1
rs1554604059	CHD7	8	60852866	frameshift variant	AG/-	delins	1
rs1554605030	CHD7	8	60856559	frameshift variant	-/T	delins	1
rs1554643463	PUF60	8	143818387	frameshift variant	T/-	del	1
rs1554787366	COL27A1	9	114167926	frameshift variant	T/-	del	1
rs1554816354	COL27A1	9	114252621	missense variant	G/A	snv	1
rs1554826746	NOTCH1	9	136499244	stop gained	G/A	snv	1
rs1554865146	PAX2	10	100809207	stop gained	C/G	snv	1
rs1555087619	CLPB	11	72308526	splice donor variant	C/T	snv	1
rs1555162407	TUBA1A	12	49185942	missense variant	C/A;T	snv	1
rs1555188379	KMT2D	12	49032761	stop gained	G/A	snv	1
rs1555198839	VWF	12	6062953	splice donor variant	C/A	snv	1
rs1555205335	TRPV4	12	109788404	missense variant	A/C	snv	1
rs1555393172	DLL4	15	40936659	frameshift variant	CGGACGACGGC/-	delins	1
rs1555447465	NR2F2	15	96337474	missense variant	G/C	snv	1
rs1555475250	CREBBP	16	3744921	stop gained	G/A	snv	1
rs1555478331	CREBBP	16	3757990	frameshift variant	T/-	del	1
rs1555543296	MYO15A ; LOC105371566	17	18135775	missense variant	T/G	snv	1
rs1555545225	MYO15A ; LOC105371566	17	18146034	frameshift variant	-/G	delins	1
rs1555564006	EFTUD2	17	44852563	splice acceptor variant	C/T	snv	1