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
rs1536225	PDCD11			10	103442561	intron variant	T/G	snv		0.29	1
rs2289746	CBLB			3	105737111	intron variant	T/C	snv		0.63	1
rs74748843	CASZ1			1	10670853	intron variant	C/T	snv		2.2E-02	1
rs7766720	LINC02532			6	106725104	non coding transcript exon variant	T/C	snv		0.16	3
rs284316	CASZ1			1	10673024	intron variant	T/C;G	snv			2
rs56121637	RNF128			X	106773038	missense variant	A/T	snv	5.8E-03	5.2E-03	2
rs12652687	FBXL17			5	108123828	intron variant	T/C	snv		0.13	1
rs1268168				6	108686955	downstream gene variant	G/A	snv		0.47	1
rs1268176				6	108696843	intergenic variant	G/A	snv		0.49	1
rs7681615				4	108772299	upstream gene variant	T/C	snv		0.67	1
rs7687209				4	108772770	upstream gene variant	T/C	snv		0.56	1
rs55929207				4	108782393	intergenic variant	C/A;G;T	snv			1
rs407102	MYBPHL			1	109303656	intron variant	C/T	snv		0.68	2
rs10127790	SORT1			1	109348511	intron variant	C/T	snv		0.63	2
rs1963869	SORT1			1	109358840	intron variant	G/A;C	snv			1
rs10816812	PTPN3			9	109444124	intron variant	T/A	snv		0.39	1
rs10857788	SYPL2			1	109469667	intron variant	G/A	snv		0.67	1
rs12136063	SYPL2			1	109471548	intron variant	G/A	snv		0.60	2
rs10096421	XKR6			8	10974358	intron variant	T/G	snv		0.60	1
rs10850813	TRPV4			12	109821615	intron variant	C/T	snv		0.23	1
rs11783418	XKR6			8	10984348	intron variant	G/A;T	snv			1
rs3783107	COL4A1	1.000	0.080	13	110189755	intron variant	G/A	snv		0.36	2
rs1536622	COL4A2			13	110412179	intron variant	T/C	snv		0.82	1
rs10794720	WDR37	1.000	0.080	10	1110225	intron variant	T/C	snv		0.89	4
rs2339717	CUX2			12	111258724	intron variant	T/C	snv		0.45	1