DisGeNET - a database of gene-disease associations

List of shared variants

Generalized hypotonia, C1858120

Disease: Mild Mental Retardation

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
rs1034395178	LZTR1	0.716	0.480	22	20996071	stop gained	C/A;T	snv	4.0E-06; 8.0E-06		33
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
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21
rs1555639076	BPTF	0.790	0.400	17	67893677	splice donor variant	A/-	delins			16
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			15
rs1562150844	PHIP	0.790	0.280	6	78982908	frameshift variant	CTTT/-	delins			14
rs137854544	CTSA	0.827	0.320	20	45894040	missense variant	T/A	snv	3.6E-05	4.9E-05	10
rs875989777	CTSA	0.851	0.320	20	45894704	frameshift variant	AT/-	delins			9