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
rs10822145	JMJD1C			10	63174788	intron variant	C/T	snv		0.44	1
rs9415676	JMJD1C			10	63250866	intron variant	A/G	snv		0.44	1
rs4454603	JMJD1C			10	63252990	intron variant	C/T	snv		0.43	1
rs41274072	JMJD1C			10	63214396	missense variant	T/C	snv	2.9E-02	5.3E-02	1
rs1935	JMJD1C			10	63168063	missense variant	C/A;G;T	snv	4.0E-06; 0.44		1
rs10761756	JMJD1C			10	63412568	intron variant	C/T	snv		0.42	1
rs7896783	JMJD1C			10	63402393	intron variant	G/A;C	snv			1
rs10822168	JMJD1C			10	63405424	intron variant	G/A	snv		0.43	1
rs10740128	JMJD1C			10	63490783	intron variant	A/G;T	snv			1
rs34044188	JMJD1C	1.000	0.080	10	63497603	intron variant	C/A;T	snv			1
rs35632171	JMJD1C	1.000	0.080	10	63349742	intron variant	T/G	snv		2.8E-02	1
rs35997229	JMJD1C	1.000	0.080	10	63197831	intron variant	T/C;G	snv			1
rs34524635	JMJD1C			10	63501417	intron variant	T/-	delins		0.43	1
rs10761750	JMJD1C			10	63368859	intron variant	G/A	snv		0.43	1
rs7088799	JMJD1C			10	63256414	intron variant	T/G	snv		0.38	1
rs2893923	JMJD1C			10	63501424	intron variant	C/T	snv		0.27	1
rs143014767	JMJD1C			10	63304077	intron variant	CTTTGCC/-	del			1
rs7080386	JMJD1C			10	63288546	intron variant	C/A	snv		0.38	1
rs6479891	JMJD1C	1.000	0.120	10	63246696	intron variant	T/A;C	snv			1
rs10740118	JMJD1C			10	63341447	intron variant	G/C	snv		0.38	1
rs10761765	JMJD1C ; LOC105378330			10	63429213	intron variant	A/G;T	snv			1
rs7923609	MIR1296 ; JMJD1C			10	63374062	intron variant	A/G	snv		0.43	1
rs2893919	MIR1296 ; JMJD1C			10	63375018	intron variant	G/A	snv		0.43	1