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
rs755885030	AZIN1-AS1			8	102916495	intron variant	AAAAA/-;AAA;AAAA;AAAAAA;AAAAAAA;AAAAAAAAAA	delins			1
rs35136957				19	10297604	downstream gene variant	AAA/-;A;AA;AAAA;AAAAA;AAAAAA	delins		0.38	1
rs112682076	KIF1B			1	10297748	intron variant	G/C	snv		5.8E-03	2
rs17308149	DYNC2H1			11	103427238	intron variant	C/T	snv		7.8E-02	1
rs1951389	MARK3			14	103432188	intron variant	G/C	snv		0.28	1
rs11111707	STAB2			12	103663606	intron variant	C/A;G	snv			1
rs899013	AMPD3			11	10455142	intron variant	A/G	snv		0.60	1
rs2494748	AKT1			14	104792555	intron variant	C/T	snv	0.51	0.48	2
rs144317085				4	104884951	intron variant	A/T	snv		2.6E-02	2
rs7679673		0.677	0.440	4	105140377	intron variant	C/A	snv		0.50	28
rs7787448	SRPK2			7	105156888	intron variant	T/A	snv		0.84	1
rs3784234				14	105170819	intron variant	A/G	snv		0.69	1
rs504117	LOC101928146 ; GCNT2			6	10518117	intron variant	G/A	snv		0.53	1
rs1350723	ZFPM2			8	105218944	intron variant	G/A	snv		0.69	1
rs6511703	KRI1			19	10555774	intron variant	T/C	snv		0.22	1
rs7832219	ZFPM2-AS1 ; ZFPM2			8	105566749	intron variant	T/C	snv		0.31	1
rs17345800	ATXN7L1			7	105637346	intron variant	T/C	snv		0.25	1
rs9373834	ATG5			6	106129819	intron variant	A/T	snv		0.36	1
rs1997814	JAG1			20	10666023	intron variant	T/G	snv		0.73	1
rs284316	CASZ1			1	10673024	intron variant	T/C;G	snv			2
rs342293	CTB-30L5.1	0.882	0.040	7	106731773	intron variant	C/G	snv		0.42	7
rs34990336	LOC105376206			9	107511301	intergenic variant	A/G;T	snv		0.18	1
rs9869574	BBX			3	107662804	5 prime UTR variant	A/C;G	snv			1
rs547364	SLC25A24			1	108199501	3 prime UTR variant	C/G	snv		0.50	1
rs663045	SLC25A24			1	108200437	5 prime UTR variant	G/C	snv		0.55	5