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
rs34782622	MAD1L1			7	2155497	intron variant	A/G	snv	0.14	1
rs13240401	MAD1L1			7	2154761	intron variant	T/A;C	snv		1
rs3800917	MAD1L1	1.000		7	2128304	intron variant	G/A	snv	0.28	1
rs71525361	MAD1L1			7	2120142	intron variant	T/A;C	snv		1
rs1860826	MAD1L1			7	2072871	intron variant	G/A;T	snv		1
rs3823624	MAD1L1	1.000	0.040	7	2070711	intron variant	T/C	snv	0.17	2
rs34731055	MAD1L1			7	2067293	intron variant	C/T	snv	0.13	1
rs56072378	MAD1L1	1.000	0.040	7	2064729	intron variant	A/G	snv	0.29	1
rs11763750	MAD1L1			7	2040479	intron variant	G/A	snv	0.16	1
rs2056477	MAD1L1	1.000	0.040	7	2040109	intron variant	G/A;C;T	snv		1
rs11514731	MAD1L1	1.000	0.040	7	2011868	intron variant	C/G	snv	0.16	2
rs57633152	MAD1L1			7	2002912	intron variant	C/G	snv	0.46	1
rs4721295	MAD1L1	0.882	0.040	7	1997034	intron variant	T/G	snv	0.33	3
rs59574136	MAD1L1	1.000	0.040	7	1996825	intron variant	T/C	snv	0.10	2
rs3931398	MAD1L1	1.000	0.040	7	1991957	intron variant	G/A	snv		1
rs58120505	MAD1L1	1.000	0.040	7	1990232	intron variant	T/C	snv	0.37	2
rs10650434	MAD1L1	1.000	0.040	7	1985461	intron variant	-/TC	delins	0.57	1
rs12668848	MAD1L1	1.000	0.040	7	1981360	intron variant	G/A;T	snv		1
rs3996330	MAD1L1			7	1979188	intron variant	C/A	snv	0.54	1
rs6461049	MAD1L1	1.000	0.040	7	1977810	intron variant	C/T	snv	0.56	1
rs12666575	MAD1L1	1.000	0.040	7	1964786	intron variant	C/G;T	snv		1
rs62442924	MAD1L1			7	1950341	intron variant	C/T	snv	0.17	1
rs10950456	MAD1L1	1.000	0.040	7	1940114	5 prime UTR variant	G/A	snv	0.57	1
rs12699477	MAD1L1	1.000	0.120	7	1929317	intron variant	T/C	snv	0.28	2
rs4332037	MAD1L1	1.000	0.040	7	1911173	intron variant	C/T	snv	0.19	1