DisGeNET - a database of gene-disease associations

List of associated variants

Impaired cognition, C0338656

Source: CLINVAR ×

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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
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs1345176461	LOC107984638 ; IRF2BPL	0.716	0.240	14	77027231	stop gained	G/A;T	snv	4.3E-06		40
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		37
rs886039469	KCNMA1-AS1 ; KCNMA1	0.701	0.560	10	76891709	missense variant	T/C	snv			34
rs80338903	USH2A	0.701	0.360	1	216247095	frameshift variant	C/-	del	7.6E-04	5.4E-04	25
rs387906686	SCN2A	0.742	0.320	2	165310413	missense variant	C/A;T	snv			23
rs587784105	NSD1	0.732	0.440	5	177235863	stop gained	G/A	snv			19
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18
rs267606670	ATP1A3	0.790	0.320	19	41968837	missense variant	C/A;T	snv			17
rs797044849	GRIN2B	0.807	0.160	12	13567164	missense variant	C/A;G;T	snv	4.0E-06		17
rs1057518907	GNAS	0.732	0.320	20	58891811	stop gained	C/G;T	snv			16
rs421016	GBA	0.683	0.440	1	155235252	missense variant	A/C;G	snv	8.0E-06; 1.3E-03		15
rs587777630	STAT1	0.716	0.440	2	190986921	missense variant	G/A	snv			15
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			14
rs139455627	TSPEAR	0.851	0.240	21	44531087	stop gained	G/A	snv	3.2E-04	2.7E-04	14
rs1569151872	TSPEAR-AS1 ; TSPEAR	0.851	0.240	21	44509225	frameshift variant	GAC/AA	delins			14
rs76763715	GBA	0.658	0.520	1	155235843	missense variant	T/C;G	snv	2.3E-03		11
rs104886033	DHCR7	0.827	0.160	11	71444952	start lost	T/C	snv	1.2E-05; 4.0E-06	3.5E-05	10
rs876660634	PTEN	0.807	0.200	10	87925551	missense variant	A/C;G	snv			10
rs2230288	GBA	0.776	0.160	1	155236376	missense variant	C/T	snv	1.0E-02	1.0E-02	9
rs1057518813	ERCC5 ; BIVM-ERCC5	0.790	0.240	13	102873305	frameshift variant	CT/-	delins			8
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	8
rs80358257	NPC1	0.827	0.280	18	23538564	missense variant	G/C	snv	1.2E-04	2.1E-04	8
rs80356537	ATP1A3	0.752	0.320	19	41970405	missense variant	C/A;G;T	snv			7
rs771063992	DNAJC21	0.827	0.240	5	34937431	stop gained	C/T	snv	2.8E-05	2.8E-05	7