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
rs4721096	LOC100127955 ; MAD1L1	1.000	0.040	7	1837675	intron variant	T/C	snv	0.84	1
rs4721089	MAD1L1			7	1833285	intron variant	C/T	snv	0.80	1
rs10650434	MAD1L1	1.000	0.040	7	1985461	intron variant	-/TC	delins	0.57	1
rs10950456	MAD1L1	1.000	0.040	7	1940114	5 prime UTR variant	G/A	snv	0.57	1
rs6461049	MAD1L1	1.000	0.040	7	1977810	intron variant	C/T	snv	0.56	1
rs3996330	MAD1L1			7	1979188	intron variant	C/A	snv	0.54	1
rs6963853	MAD1L1 ; LOC105375128			7	1819089	intron variant	G/A	snv	0.48	1
rs4236274	MAD1L1	1.000	0.040	7	1856777	intron variant	A/G	snv	0.47	1
rs57633152	MAD1L1			7	2002912	intron variant	C/G	snv	0.46	1
rs4721135	MAD1L1			7	1872586	intron variant	A/G	snv	0.37	1
rs58120505	MAD1L1	1.000	0.040	7	1990232	intron variant	T/C	snv	0.37	2
rs10275045	MAD1L1	0.882	0.160	7	1881190	intron variant	C/T	snv	0.35	2
rs4721295	MAD1L1	0.882	0.040	7	1997034	intron variant	T/G	snv	0.33	3
rs13234909	MAD1L1			7	1827295	intron variant	G/A	snv	0.33	1
rs56072378	MAD1L1	1.000	0.040	7	2064729	intron variant	A/G	snv	0.29	1
rs12699477	MAD1L1	1.000	0.120	7	1929317	intron variant	T/C	snv	0.28	2
rs3800917	MAD1L1	1.000		7	2128304	intron variant	G/A	snv	0.28	1
rs10267593	MAD1L1	1.000	0.040	7	1897625	intron variant	G/A	snv	0.25	1
rs4332037	MAD1L1	1.000	0.040	7	1911173	intron variant	C/T	snv	0.19	1
rs62442924	MAD1L1			7	1950341	intron variant	C/T	snv	0.17	1
rs3823624	MAD1L1	1.000	0.040	7	2070711	intron variant	T/C	snv	0.17	2
rs11763750	MAD1L1			7	2040479	intron variant	G/A	snv	0.16	1
rs11514731	MAD1L1	1.000	0.040	7	2011868	intron variant	C/G	snv	0.16	2
rs34782622	MAD1L1			7	2155497	intron variant	A/G	snv	0.14	1
rs527510716	MAD1L1	1.000	0.080	7	1904901	intron variant	G/C	snv	0.14	1