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 GENOME	Num. diseases
rs141007801	CASC15			6	21722558	intron variant	A/-;AA;AAA;AAAA	delins		2
rs9466161	CASC15			6	21722685	intron variant	T/C	snv	0.25	1
rs6926491	CASC15			6	21724439	intron variant	G/A	snv	0.21	1
rs2479808	CASC15	1.000	0.080	6	21824163	intron variant	C/T	snv	7.5E-02	1
rs112204664	CASC15			6	21867474	intron variant	G/A	snv	0.13	1
rs74360995	CASC15			6	21886258	non coding transcript exon variant	T/C	snv	0.12	1
rs9350395	CASC15	1.000	0.080	6	21905495	intron variant	A/G;T	snv		1
rs7760082	CASC15			6	21919156	intron variant	G/A	snv	0.59	1
rs6934973	CASC15			6	21920795	intron variant	A/G	snv	0.32	1
rs67258057	CASC15			6	21948833	intron variant	G/A	snv	4.8E-02	1
rs6903716	CASC15			6	21956173	intron variant	A/G	snv	0.30	1
rs7763264	CASC15			6	21959834	intron variant	C/G;T	snv		1
rs2078543	CASC15			6	21996631	intron variant	A/G	snv	0.69	1
rs13198656	CASC15	1.000	0.040	6	22004680	intron variant	C/A;T	snv		1
rs13198081	CASC15			6	22017314	intron variant	G/C	snv	0.35	1
rs1928168	CASC15			6	22017509	intron variant	T/C	snv	0.36	1
rs2294214	CASC15	0.882	0.040	6	22056694	splice region variant	A/C;T	snv		6
rs196052	CASC15	1.000	0.040	6	22056971	intron variant	T/A;C	snv		1
rs55775505	CASC15	0.882	0.040	6	22057337	intron variant	C/A;G;T	snv		3
rs10484389	CASC15			6	22075033	intron variant	C/T	snv	6.0E-02	1
rs4712652	CASC15	1.000	0.080	6	22078386	intron variant	G/A	snv	0.64	1
rs1928175	CASC15			6	22079256	intron variant	G/A	snv	0.55	1
rs12196123	CASC15	1.000	0.040	6	22082034	intron variant	C/T	snv	0.47	1
rs12212674	CASC15	1.000	0.040	6	22086845	intron variant	T/A	snv	0.48	1
rs10946507	CASC15	1.000	0.040	6	22100138	intron variant	G/A;T	snv		1