DisGeNET - a database of gene-disease associations

Source: GWASCAT ×

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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 GENOME	Num. diseases
rs185898	RTTN	18	70023957	intron variant	G/A	snv	4.4E-02	2
rs200891	LOC107984104	20	1811274	intron variant	T/G	snv	0.56	2
rs2014511	LOC105377498 ; TMEM131L	4	153536367	intron variant	G/A;T	snv	4.7E-02	2
rs2038480	DNM3	1	171970501	intron variant	A/G;T	snv		2
rs2057149	DDO	6	110396290	intron variant	C/T	snv	0.74	2
rs214053	CARMIL1	6	25527735	intron variant	T/C	snv	0.43	2
rs3748136		8	9172650	intron variant	G/A	snv	0.21	2
rs4555082	BRF1	14	105292627	intron variant	C/T	snv	0.30	2
rs72315235	LHFPL2	5	78489899	intron variant	AAGA/-;AAGAAAGA	delins		2
rs76900683	LNX2	13	27583898	intron variant	G/C	snv	3.0E-02	2
rs78346539	DNM3	1	171966088	intron variant	C/G	snv	8.6E-03	2
rs7949566	ST3GAL4	11	126415406	intron variant	G/A	snv	0.45	2
rs8106212	VAV1	19	6802560	intron variant	C/T	snv	3.2E-02	2
rs10740118	JMJD1C	10	63341447	intron variant	G/C	snv	0.38	1
rs10771511	FAR2 ; LOC100506606	12	29284284	intron variant	T/A;C	snv		1
rs11062517	TSPAN9	12	3126673	intron variant	C/A;G;T	snv		1
rs11065961	ATXN2	12	111585263	intron variant	G/A	snv	0.57	1
rs11124063	NCK2	2	105842350	intron variant	T/C	snv	0.68	1
rs11576356	SKI	1	2302522	intron variant	G/A	snv	0.14	1
rs11620465	LRCH1	13	46676209	intron variant	C/T	snv	0.49	1
rs11646743	SEC14L5	16	4974040	intron variant	G/A	snv	0.42	1
rs116778355	DOCK10	2	224951925	intron variant	A/T	snv	1.5E-02	1
rs1172149	TMCC2	1	205255630	intron variant	A/G	snv	0.51	1
rs11765583	ELMO1	7	37401657	intron variant	G/A	snv	0.24	1
rs117748422	GRTP1 ; GRTP1-AS1	13	113358194	intron variant	C/T	snv	3.1E-02	1