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	Chr	Position	Consequence	Alleles	Class	AF GENOME	Num. diseases
rs61823972	TMCC2	1	205232197	intron variant	A/C;T	snv		4
rs1172129	TMCC2	1	205275844	intron variant	T/A	snv	0.30	2
rs1172130	TMCC2	1	205275825	intron variant	G/A	snv	0.30	2
rs1172149	TMCC2	1	205255630	intron variant	A/G	snv	0.51	2
rs1668871	TMCC2	1	205268009	intron variant	T/C;G	snv		2
rs1668873	TMCC2	1	205266862	intron variant	G/A	snv	0.27	2
rs748012	TMCC2	1	205247445	intron variant	G/A	snv	0.27	2
rs9660992	TMCC2	1	205280322	intron variant	A/G	snv	0.43	2
rs1078362	LOC101929459 ; TMCC2	1	205240402	intron variant	A/G	snv	0.47	1
rs1172159	LOC101929459 ; TMCC2	1	205238384	intron variant	T/C	snv	0.27	1
rs1172161	LOC101929459 ; TMCC2	1	205237367	intron variant	C/T	snv	0.27	1
rs896320	LOC101929459 ; TMCC2	1	205236219	intron variant	T/A;C	snv		1
rs896322	LOC101929459 ; TMCC2	1	205240617	intron variant	A/G	snv	0.92	1
rs1151784	TMCC2	1	205263319	intron variant	C/T	snv	0.25	1
rs1151785	TMCC2	1	205263171	intron variant	C/T	snv	0.25	1
rs1151786	TMCC2	1	205258632	intron variant	G/A;C;T	snv		1
rs1151787	TMCC2	1	205285110	intron variant	G/A	snv	0.25	1
rs1172111	TMCC2	1	205263852	intron variant	G/A	snv	0.27	1
rs1172128	TMCC2	1	205276105	intron variant	A/G	snv	0.94	1
rs1172132	TMCC2	1	205273773	intron variant	A/G	snv	0.67	1
rs1172135	TMCC2	1	205278032	non coding transcript exon variant	G/C;T	snv		1
rs1172136	TMCC2	1	205277969	intron variant	T/G	snv	0.25	1
rs1172137	TMCC2	1	205276933	intron variant	G/T	snv	0.43	1
rs1172139	TMCC2	1	205244834	intron variant	G/A	snv	0.27	1
rs1172140	TMCC2	1	205243896	intron variant	G/A	snv	0.49	1