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
rs6590812	ARHGAP42	11	100711497	intron variant	G/A	snv		0.55	1
rs116201073	ARMC5	16	31466121	synonymous variant	T/C	snv	5.1E-03	2.2E-02	1
rs2288646	ASIC3	7	151052723	synonymous variant	G/A	snv	2.0E-03	8.1E-04	1
rs2982468	ATP1B1	1	169121733	intron variant	T/A	snv		7.5E-02	1
rs11105368	ATP2B1	12	89680664	intron variant	G/A;C	snv			1
rs11105378	ATP2B1	12	89696964	intron variant	C/T	snv		0.15	1
rs2070759	ATP2B1	12	89623959	intron variant	G/T	snv		0.49	1
rs7297206	ATP2B1	12	89625452	intron variant	C/A;T	snv			1
rs3803107	AVPR1A	12	63147054	3 prime UTR variant	G/A	snv		0.21	1
rs16835244	AZIN2	1	33096815	missense variant	G/A;T	snv	4.0E-06; 2.5E-02	9.6E-03	1
rs4900318	BDKRB2	14	96222623	intron variant	A/C	snv		0.54	1
rs28404156	BST1	4	15736109	missense variant	G/A	snv	7.4E-02	0.10	1
rs6427212	C1orf112	1	169719900	intron variant	G/A	snv		0.19	1
rs749309558	CACNA1A	19	13334405	missense variant	C/T	snv	8.0E-06		1
rs12715461	CACNA1D	3	53544856	intron variant	A/C;G;T	snv			1
rs10491334	CAMK4	5	111436706	intron variant	C/T	snv		0.14	1
rs1214959853	CCHCR1	6	31150504	missense variant	T/C	snv			1
rs2027937	CCHCR1	6	31148725	missense variant	C/T	snv	8.3E-02	6.6E-02	1
rs2504778	CD164L2	1	27381490	intron variant	G/A	snv		0.77	1
rs12444338	CDH13	16	82626550	upstream gene variant	G/A;C;T	snv			1
rs7500599	CDH13	16	83058264	intron variant	G/T	snv		0.51	1
rs4783745	CES2	16	66937072	intron variant	A/G	snv		0.27	1
rs1397858410	CHGA	14	92932714	missense variant	G/A	snv			1
rs117564807	COL17A1	10	104040357	missense variant	C/G;T	snv	1.9E-03		1
rs111253292	CORIN	4	47661743	missense variant	T/G	snv	4.6E-03	2.0E-02	1