DisGeNET - a database of gene-disease associations

List of associated variants

Trichorhinophalangeal Syndrome, Type III, C1860823

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
rs886040971	TRPS1	0.683	0.280	8	115604339	stop gained	G/A;T	snv			56
rs1057518972	TRPS1	0.827	0.200	8	115418359	missense variant	C/T	snv			7
rs368166434	TRPS1	0.851	0.200	8	115603883	stop gained	G/A;C	snv			4
rs121908435	TRPS1	0.925	0.160	8	115418391	missense variant	C/G;T	snv			2
rs121908436	TRPS1	0.925	0.160	8	115418358	missense variant	G/A	snv			2
rs1554593085	TRPS1	0.925	0.160	8	115587497	frameshift variant	GATGTCCTGT/-	delins			2
rs1554596063	TRPS1	0.925	0.160	8	115604319	frameshift variant	GC/-	del			2
rs1563623987	TRPS1	0.925	0.160	8	115587133	stop gained	A/C	snv			2
rs1563637033	TRPS1	0.925	0.160	8	115604264	frameshift variant	ATGGAGCTGTT/-	delins			2
rs1563638577	TRPS1	0.925	0.160	8	115604951	frameshift variant	-/GCAA	delins			2
rs28939069	TRPS1	0.925	0.160	8	115415015	missense variant	G/A	snv			2
rs28939070	TRPS1	0.925	0.160	8	115415014	missense variant	C/T	snv			2
rs751565386	TRPS1	0.925	0.160	8	115418392	stop gained	G/A;T	snv	8.0E-06		2
rs121908433	TRPS1	1.000	0.160	8	115418413	missense variant	T/G	snv			1