DisGeNET - a database of gene-disease associations

List of associated variants

Hyperreflexia, C0151889

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
rs1553655558	TRIP12	0.752	0.360	2	229830831	frameshift variant	A/-	delins			43
rs1345176461	LOC107984638 ; IRF2BPL	0.716	0.240	14	77027231	stop gained	G/A;T	snv	4.3E-06		40
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
rs864321670	ALDH18A1	0.763	0.320	10	95633012	missense variant	C/T	snv			24
rs1555954284	DDX3X	0.752	0.360	X	41346607	missense variant	C/T	snv			24
rs1448259271	IRF2BPL ; LOC107984638	0.790	0.240	14	77027279	stop gained	C/A;T	snv			23
rs1555817157	ABHD12	0.742	0.280	20	25339320	frameshift variant	TCTTCCTCAGGCG/-	del			16
rs587777446	IFIH1	0.807	0.200	2	162273913	missense variant	C/T	snv	4.0E-06		11
rs672601368	KIF1A	0.827	0.160	2	240785062	missense variant	C/G;T	snv			10
rs864309483	ADCY5	0.851	0.080	3	123352464	missense variant	G/A	snv			9
rs863224880	IGHMBP2	0.925	0.160	11	68906074	stop gained	G/A	snv			7
rs1555475794	JMJD8 ; STUB1	0.925	0.120	16	682729	3 prime UTR variant	T/C	snv			7
rs121918550	AAAS	1.000	0.080	12	53309624	missense variant	A/G	snv	1.2E-04	4.9E-05	5
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
rs724159992	ABAT	1.000	0.080	16	8750498	missense variant	G/A	snv		1.4E-05	5
rs724159991	TMEM186 ; ABAT	1.000	0.080	16	8781360	missense variant	T/C	snv			5
rs1057518760	KIF1A	1.000	0.080	2	240788182	missense variant	C/T	snv			4