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
rs886041936	HDAC8	0.827	0.120	X	72495210	stop gained	G/A	snv			14
rs397515415	HDAC8	0.807	0.240	X	72495216	stop gained	G/A;T	snv			10
rs1556009247	HDAC8	0.882		X	72490973	missense variant	A/C;T	snv			7
rs1556165162	HDAC8	0.882	0.120	X	72572657	frameshift variant	GG/-	delins			7
rs1057516037	HDAC8	0.925		X	72464626	protein altering variant	TGGAG/AC	delins			4
rs869312660	HDAC8	0.925	0.160	X	72488932	splice donor variant	C/T	snv			3
rs397515417	HDAC8	0.925		X	72462077	missense variant	G/A	snv	5.5E-06		3
rs878853048	HDAC8			X	72567910	missense variant	C/G	snv			2
rs398122909	HDAC8	1.000		X	72462051	missense variant	C/T	snv			1
rs146015223	HDAC8	1.000		X	72495184	stop gained	G/A;T	snv	3.9E-05	3.8E-05	1
rs1569316085	HDAC8	1.000		X	72462072	stop gained	G/A	snv			1
rs398122888	HDAC8	1.000		X	72572052	splice region variant	C/T	snv			1
rs797045613	HDAC8	1.000		X	72464699	missense variant	G/T	snv			1
rs1555948969	HDAC8	1.000		X	72351763	stop gained	G/A	snv			1
rs1057518727	HDAC8	1.000		X	72495179	missense variant	T/C	snv			1
rs797045611	HDAC8	1.000		X	72568820	stop gained	G/A	snv			1
rs1569317995	HDAC8	1.000		X	72464673	missense variant	C/G	snv			1
rs1555949010	HDAC8	1.000		X	72351825	missense variant	T/G	snv			1
rs797045612	HDAC8	1.000		X	72491001	splice acceptor variant	C/T	snv			1
rs587783663	HDAC8	1.000		X	72572090	frameshift variant	A/-	delins			1
rs587779380	HDAC8	1.000		X	72567970	missense variant	G/A	snv			1
rs397515416	HDAC8	1.000		X	72495167	missense variant	T/C	snv			1
rs797045610	HDAC8	1.000		X	72572084	frameshift variant	TCAA/-	delins			1
rs397515418	HDAC8	1.000		X	72462008	missense variant	T/C	snv			1
rs863224877	HDAC8	1.000		X	72351840	splice acceptor variant	T/C	snv			1