DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Neurodevelopmental delay ×

Variants associated to the Gene: PHIP ×

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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
rs1562127631	IRAK1BP1 ; PHIP	0.742	0.360	6	78961751	frameshift variant	C/-	del			24
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21
rs1085307845	PHIP	0.752	0.320	6	79025582	missense variant	G/T	snv			21
rs1554210073	PHIP	0.752	0.320	6	79042844	frameshift variant	GT/A	delins			21
rs1131691771	PHIP ; IRAK1BP1	0.807	0.160	6	78958469	splice donor variant	ACTT/-	delins			18
rs1562150844	PHIP	0.790	0.280	6	78982908	frameshift variant	CTTT/-	delins			14
rs1562134961	IRAK1BP1 ; PHIP	0.776	0.320	6	78969879	frameshift variant	A/-	delins			13
rs755604487	PHIP	0.790	0.200	6	79026079	stop gained	G/A;C	snv			10
rs1562171209	PHIP	0.851	0.160	6	79003821	missense variant	T/C	snv			9
rs1562203136	PHIP	0.882	0.120	6	79042902	frameshift variant	-/T	ins			9