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
rs7500448	CDH13	1.000	0.040	16	83012185	intron variant	A/G	snv	0.20	3
rs7206608	CDH13			16	82839023	intron variant	C/G	snv	0.32	2
rs2194285	CDH13	0.925	0.040	16	82861212	intron variant	G/A	snv	0.74	2
rs4513093	CDH13	0.882	0.200	16	82872937	intron variant	A/C;G	snv		2
rs4378601	CDH13	0.925	0.040	16	83050526	intron variant	C/A;T	snv		2
rs12598815	CDH13 ; LOC101928446			16	82814603	intron variant	A/G	snv	4.9E-02	2
rs77894924	CDH13	1.000	0.080	16	83521415	intron variant	G/A;T	snv	6.7E-03	1
rs10492862	CDH13	1.000	0.040	16	82833851	intron variant	C/A;G;T	snv		1
rs7193703	CDH13	1.000	0.040	16	83624538	intron variant	A/G	snv	9.9E-03	1
rs4782534	CDH13	1.000	0.040	16	83423407	intron variant	G/A;C;T	snv		1
rs1489313	CDH13	1.000	0.040	16	83423986	intron variant	C/A;G	snv		1
rs77347308	CDH13	1.000	0.040	16	82761814	intron variant	A/G;T	snv		1
rs114132812	CDH13	1.000	0.040	16	83784283	intron variant	A/T	snv	5.4E-03	1
rs115067260	CDH13	1.000	0.040	16	83788697	intron variant	A/T	snv	1.0E-02	1
rs9940464	CDH13	1.000	0.040	16	83327170	intron variant	T/C	snv	0.39	1
rs8057927	CDH13	1.000	0.040	16	82659207	intron variant	T/C	snv	0.12	1
rs9933476	CDH13			16	83353192	intron variant	G/A	snv	0.57	1
rs8056960	CDH13			16	83357533	intron variant	C/G;T	snv		1
rs4075464	CDH13			16	83115081	intron variant	A/G	snv	0.57	1
rs4077666	CDH13			16	83116148	intron variant	C/G	snv	0.14	1
rs61527214	CDH13			16	83574994	intron variant	G/A	snv	0.36	1
rs11149581	CDH13			16	83583973	intron variant	T/G	snv	0.27	1
rs7196583	CDH13			16	83111245	intron variant	T/A;C;G	snv		1
rs11864066	CDH13			16	83353167	intron variant	G/A;C	snv		1
rs12051272	CDH13	0.925	0.120	16	82629683	intron variant	G/C;T	snv		1