DisGeNET - a database of gene-disease associations

List of shared variants

Generalized hypotonia, C1858120

Disease: Hyperreflexia

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
rs878853250	SCN8A	0.752	0.360	12	51699663	stop gained	T/A;C	snv			37
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs672601368	KIF1A	0.827	0.160	2	240785062	missense variant	C/G;T	snv			10
rs121434578	ABAT	1.000	0.080	16	8768248	missense variant	G/A	snv			5
rs724159990	ABAT	1.000	0.080	16	8768220	missense variant	C/T	snv			5
rs724159991	TMEM186 ; ABAT	1.000	0.080	16	8781360	missense variant	T/C	snv			5
rs724159992	ABAT	1.000	0.080	16	8750498	missense variant	G/A	snv		1.4E-05	5