DisGeNET - a database of gene-disease associations

List of associated variants

Neoplastic Syndromes, Hereditary, C0027672

Source: ALL

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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
rs121908814	TMEM127 ; CIAO1	0.925	0.040	2	96265379	start lost	C/A;T	snv			3
rs121908816	TMEM127 ; CIAO1	0.925	0.080	2	96265262	frameshift variant	ACAG/-	delins		2.1E-05	3
rs587781773	TMEM127			2	96254994	frameshift variant	A/-	delins	4.0E-06		1
rs886039439	TMEM127	1.000	0.080	2	96254061	stop gained	A/T	snv	8.0E-06	2.8E-05	2
rs121908830	TMEM127	0.925	0.040	2	96254050	stop gained	G/A	snv			3
rs1215337884	TMEM127			2	96253955	frameshift variant	G/-	delins	4.0E-06		1
rs1131690967	PTCH1			9	95508160	splice donor variant	C/T	snv			1
rs878853849	PTCH1	1.000	0.160	9	95506601	splice acceptor variant	T/C;G	snv			2
rs1131690968	PTCH1			9	95506507	stop gained	G/T	snv			1
rs772407797	PTCH1			9	95506504	synonymous variant	G/A;C	snv	4.0E-06		1
rs1554708626	PTCH1			9	95506414	frameshift variant	CCACAGCTCCTCCACGT/-	del			1
rs1131690995	PTCH1			9	95506406	splice donor variant	C/T	snv			1
rs1131690986	PTCH1	1.000	0.160	9	95485866	stop gained	G/A	snv			2
rs1131690981	PTCH1			9	95485778	frameshift variant	TTAGGGGTCT/-	delins			1
rs1131690993	PTCH1			9	95482029	frameshift variant	AT/-	delins			1
rs1131690971	PTCH1			9	95481979	frameshift variant	-/C	delins			1
rs1060502281	PTCH1	1.000	0.160	9	95481954	stop gained	G/T	snv			2
rs1131690994	PTCH1			9	95481948	splice donor variant	C/G	snv			1
rs1131690969	PTCH1	1.000	0.160	9	95480525	frameshift variant	CTTT/-	delins			2
rs1131690987	PTCH1	1.000	0.160	9	95480449	frameshift variant	A/-	del			2
rs1131690973	PTCH1			9	95480448	frameshift variant	GGGGCGGTCCA/-	delins			1
rs1131690979	PTCH1			9	95480388	splice donor variant	A/G	snv			1
rs1554699612	PTCH1			9	95480026	frameshift variant	CAGTGCATAT/-	del			1
rs1131690970	PTCH1			9	95480014	stop gained	A/T	snv			1
rs1085307752	PTCH1			9	95479148	splice acceptor variant	C/A;T	snv			1