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
rs646776	CELSR2	0.752	0.240	1	109275908	downstream gene variant	C/T	snv		0.74	10
rs599839	PSRC1	0.724	0.360	1	109279544	downstream gene variant	G/A;C	snv			9
rs12740374	CELSR2	0.851	0.040	1	109274968	3 prime UTR variant	G/T	snv		0.22	8
rs7528419	CELSR2	0.851	0.080	1	109274570	3 prime UTR variant	A/G	snv		0.23	7
rs660240	CELSR2			1	109275216	3 prime UTR variant	T/C	snv		0.75	5
rs10800805	LOC112268254 ; RNPEP			1	201990610	intron variant	G/A;C	snv			1
rs11586632	RNPEP			1	201986486	intron variant	G/A;T	snv			1
rs11590299	RNPEP			1	201984468	intron variant	T/A	snv		0.55	1
rs4950752	RNPEP			1	201987299	intron variant	G/A	snv		0.54	1
rs4950806	RNPEP			1	201983446	5 prime UTR variant	T/C	snv	0.58	0.60	1
rs6689324	RNPEP			1	201985569	intron variant	C/G;T	snv			1
rs7529387	RNPEP			1	201980910	upstream gene variant	G/A	snv		0.58	1
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	25
rs693	APOB	0.708	0.440	2	21009323	synonymous variant	G/A	snv	0.39	0.38	7
rs10199768	APOB			2	21021128	intron variant	G/T	snv		0.35	5
rs10211196	CYP20A1			2	203265173	intron variant	G/A	snv		0.40	1
rs10439267	NBEAL1			2	203058724	intron variant	C/T	snv		0.40	1
rs10497870	NBEAL1			2	203105560	intron variant	A/C;G	snv			1
rs11675251	ABI2			2	203384676	intron variant	A/G	snv		0.44	1
rs11675464	NBEAL1			2	203189019	intron variant	A/G	snv		0.43	1
rs11679740	RAPH1			2	203450671	intron variant	G/A;C	snv			1
rs11683935	RAPH1			2	203513148	intron variant	C/G;T	snv			1
rs11686036	ABI2			2	203376916	intron variant	A/G;T	snv			1
rs11687186	RAPH1			2	203455116	intron variant	C/G	snv		0.43	1
rs11690927	NBEAL1			2	203079305	intron variant	A/G	snv		0.44	1