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 GENOME	Num. diseases
rs10007754	TACR3			4	103706285	intron variant	T/G	snv	0.34	1
rs10019555	TACR3			4	103694124	intron variant	G/A;C	snv		1
rs100537	RXRG			1	165444407	intron variant	A/G	snv	0.60	1
rs10060622	LINC00461			5	88634051	intron variant	T/C	snv	0.20	1
rs10063744	LOC101929710			5	96314068	intron variant	C/G	snv	0.27	1
rs10094574				8	77203831	intergenic variant	G/A;T	snv		1
rs10119582	PTPRD			9	10060803	intron variant	C/T	snv	7.7E-02	1
rs10136330	PRKD1			14	30045129	intron variant	C/T	snv	9.3E-02	1
rs10144321	WDR25			14	100416068	intron variant	A/G	snv	0.24	1
rs10150590				14	40456677	intergenic variant	A/C	snv	0.63	1
rs10156597	LINC01505			9	106179228	intron variant	A/T	snv	0.36	2
rs10170108				2	136692386	intergenic variant	G/A	snv	0.53	1
rs10217747	ZNF483			9	111547655	3 prime UTR variant	T/A;C	snv		1
rs10226266				7	32901507	intergenic variant	A/G	snv	0.63	1
rs10232457	SLC25A40			7	87833200	downstream gene variant	A/T	snv	0.10	1
rs10264856	RUNDC3B ; ABCB1			7	87633265	intron variant	G/A	snv	0.16	1
rs1032728	SCMH1			1	41213894	intron variant	A/T	snv	0.17	1
rs1038903				4	28750432	intergenic variant	C/T	snv	0.79	1
rs1040070	LRRC53 ; FPGT-TNNI3K ; TNNI3K	1.000	0.080	1	74512186	intron variant	G/A;C	snv		2
rs10401175	MAST3			19	18119464	intron variant	C/A;G	snv		1
rs10423674	CRTC1			19	18707093	intron variant	C/A;T	snv		1
rs10441737	ZNF483			9	111539305	intron variant	C/T	snv	0.59	1
rs10453225	LINC01505			9	106157939	intron variant	G/T	snv	0.36	1
rs1045590	RSF1			11	77665761	3 prime UTR variant	C/A	snv	0.24	1
rs1054442	DDN	0.925	0.040	12	48995537	3 prime UTR variant	A/C	snv	0.46	4