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
rs10518202		4	78758523	intergenic variant	G/T	snv		9.6E-02	1
rs17003443		4	78749373	TF binding site variant	C/T	snv		6.3E-02	1
rs17424324		7	133111563	intergenic variant	A/T	snv		0.11	1
rs4432766		4	78751385	regulatory region variant	T/A	snv		0.17	1
rs11083274	ABHD3	18	21677162	intron variant	T/C	snv		0.15	1
rs4770891	ATP8A2	13	25983588	intron variant	C/G	snv		8.0E-02	1
rs7335338	ATP8A2	13	25668367	intron variant	T/A;C	snv			1
rs1824965	CHAER1	4	56703381	intergenic variant	T/C	snv		0.50	1
rs12583793	COG3	13	45483151	intron variant	G/A	snv		9.1E-02	1
rs76065946	DIAPH3	13	59799570	intron variant	A/T	snv		7.5E-02	1
rs11842790	DLEU1	13	50350312	intron variant	C/T	snv		6.0E-02	1
rs12853498	DLEU1	13	50339738	intron variant	T/A	snv		5.8E-02	1
rs12871645	DLEU1	13	50357429	intron variant	G/T	snv		3.8E-02	1
rs12874278	DLEU1	13	50361786	intron variant	C/T	snv		6.5E-02	1
rs12874827	DLEU1	13	50326600	intron variant	T/G	snv		5.5E-02	1
rs17074093	DLEU1	13	50314567	intron variant	A/G	snv		5.8E-02	1
rs17074143	DLEU1	13	50348637	intron variant	A/T	snv		5.8E-02	1
rs17074145	DLEU1	13	50355253	intron variant	G/C	snv		5.8E-02	1
rs17363566	DLEU1	13	50360756	intron variant	G/A	snv		6.5E-02	1
rs706603	DLEU1	13	50280887	intron variant	C/T	snv		0.88	1
rs11662308	ESCO1	18	21585516	intron variant	T/G	snv		0.15	1
rs12373434	ESCO1	18	21532778	intron variant	T/C;G	snv			1
rs973730	ESCO1	18	21573533	synonymous variant	C/T	snv	0.84	0.83	1
rs16850871	GALNT2	1	230083723	intron variant	A/G	snv		0.11	1
rs7513659	GALNT2	1	230090639	intron variant	G/A	snv		8.5E-02	1