DisGeNET - a database of gene-disease associations

List of associated variants

Sudden infant death syndrome, C0038644

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs899127658	F2	0.547	0.720	11	46739084	missense variant	G/A;C	snv			82
rs25531	SLC6A4 ; LOC105371720	0.581	0.520	17	30237328	upstream gene variant	T/C	snv		0.18	72
rs751377893	F5	0.574	0.680	1	169546513	missense variant	T/C	snv	4.0E-06		65
rs4647924	FGFR3	0.600	0.520	4	1801844	missense variant	C/A;G;T	snv	4.2E-06; 4.2E-06		49
rs2069705	IFNG-AS1 ; IFNG	0.695	0.440	12	68161231	intron variant	G/A;C	snv			19
rs1805123	KCNH2	0.724	0.280	7	150948446	missense variant	T/A;C;G	snv	1.3E-05; 0.18; 8.4E-06		18
rs767910122	KCNH2	0.724	0.280	7	150948446	frameshift variant	-/GTCCG	ins		4.4E-05	17
rs794728448	KCNH2	0.724	0.280	7	150948445	frameshift variant	CT/G	delins			17
rs45546039	SCN5A	0.732	0.120	3	38613781	missense variant	C/A;T	snv	4.1E-06		15
rs2069718	IFNG ; IFNG-AS1	0.742	0.320	12	68156382	intron variant	A/G;T	snv		0.50	14
rs1318358361	ARID1B	0.724	0.240	6	156778678	missense variant	C/G	snv		2.1E-05	13
rs80356779	CPT1A	0.776	0.320	11	68780662	missense variant	G/A	snv	3.2E-05	5.6E-05	10
rs7626962	SCN5A	0.790	0.080	3	38579416	missense variant	G/A;T	snv	1.6E-05; 5.9E-03		10
rs2069727	IFNG ; IFNG-AS1	0.763	0.320	12	68154443	intron variant	T/A;C	snv			9
rs199473097	SCN5A	0.763	0.120	3	38606710	missense variant	G/A	snv	8.0E-06	7.0E-06	9
rs757532106	SCN5A	0.763	0.120	3	38550500	stop gained	G/A	snv	4.5E-05	4.9E-05	9
rs794728708	RYR2	0.827	0.120	1	237377386	missense variant	G/A;T	snv			8
rs72546668	SSUH2 ; CAV3	0.807	0.200	3	8745644	missense variant	C/A;T	snv	4.0E-06; 2.6E-03		8
rs2266782	FMO3	0.851	0.200	1	171107825	missense variant	G/A	snv	0.37	0.41	7
rs10494366	LOC105371475 ; NOS1AP	0.851	0.200	1	162115895	intron variant	G/T	snv		0.54	7
rs1130183	KCNJ10	0.827	0.160	1	160041722	missense variant	G/A	snv	4.6E-02	4.7E-02	6