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
rs10031466	TRIML2			4	188094248	intron variant	G/A	snv		0.56	2
rs1003858	PAPPA			9	116202676	intron variant	G/C	snv		1.1E-02	2
rs10041657	FER			5	108816727	intron variant	G/A	snv		0.23	2
rs1013443				5	180774114	intergenic variant	A/T	snv		1.4E-03	1
rs1014242	PDE1C			7	32232693	intron variant	C/T	snv		0.54	1
rs1014667	NRXN1			2	50521617	intron variant	G/A;C	snv			2
rs10195252	COBLL1	0.925	0.080	2	164656581	intron variant	T/C	snv		0.48	7
rs1021070	CHRNB4			15	78654521	intron variant	C/A;G	snv			1
rs1021071	CHRNB4 ; LOC112268142			15	78675837	intron variant	G/C	snv		0.28	3
rs10226228	PDE1C			7	32276001	intron variant	A/G	snv		0.38	1
rs10236197	PDE1C			7	32252149	intron variant	T/C	snv		0.41	2
rs10245353				7	25818994	intergenic variant	C/A	snv		0.16	4
rs10259431	PDE1C			7	32241785	intron variant	C/T	snv		0.54	1
rs10264177	PDE1C			7	32331250	intron variant	A/G	snv		0.40	1
rs10269774	CDK6			7	92624658	intron variant	G/A	snv		0.36	2
rs1028936	HECTD2-AS1			10	91590040	regulatory region variant	A/C	snv		0.18	1
rs10425738	CYP2G1P			19	40911822	non coding transcript exon variant	G/A	snv		0.74	2
rs10440708				5	173223484	downstream gene variant	A/G	snv		4.3E-02	2
rs1045241	TNFAIP8	1.000	0.120	5	119393591	3 prime UTR variant	C/T	snv		0.30	6
rs10488693	DAGLA			11	61717684	intron variant	C/T	snv		6.0E-02	2
rs1049281	HLA-C	1.000	0.120	6	31268790	3 prime UTR variant	T/C	snv		0.68	3
rs10501157	TRAF6			11	36485319	3 prime UTR variant	T/C	snv		1.6E-02	2
rs10503023				18	59165543	intergenic variant	G/A	snv		0.21	2
rs10508503		1.000	0.080	10	16257952	intergenic variant	C/A;T	snv			2
rs1051730	CHRNA3	0.641	0.600	15	78601997	synonymous variant	G/A	snv	0.27	0.26	43