DisGeNET - a database of gene-disease associations

List of associated variants

ADULT SYNDROME, C1863204

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
rs113993967	TP63	0.851	0.240	3	189868597	missense variant	G/A	snv			5
rs1173679499	TP63	0.827	0.280	3	189869372	missense variant	G/A	snv	4.0E-06		5
rs121908835	TP63	0.882	0.240	3	189864379	missense variant	C/T	snv		7.0E-06	3
rs113993963	TP63	0.925	0.240	3	189789816	missense variant	A/C	snv			2
rs113993965	TP63	0.925	0.240	3	189808465	missense variant	G/A;T	snv			2
rs113993966	TP63	0.925	0.240	3	189868596	missense variant	C/G	snv			2
rs121908847	TP63	0.925	0.240	3	189868641	missense variant	A/G	snv			2
rs121908849	TP63	0.925	0.240	3	189866712	missense variant	G/A	snv			2
rs150849660	CKAP4	1.000	0.240	12	106240156	missense variant	C/T	snv	2.4E-05	9.8E-05	1
rs774804936	CKAP4	1.000	0.240	12	106240150	missense variant	C/T	snv	4.0E-06	7.0E-06	1
rs797044843	TP63	1.000	0.240	3	189894419	frameshift variant	C/-	delins			1