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
rs1801030	SULT1A1	1.000	0.040	16	28606164	missense variant	C/G;T	snv	8.1E-06; 0.98		1
rs199473190	SCN5A	1.000	0.040	3	38579474	missense variant	C/G;T	snv	8.2E-06		1
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
rs786205867	KCND3	0.882	0.080	1	111787039	missense variant	C/T	snv			3
rs137854610	SCN5A	0.925	0.120	3	38550895	missense variant	C/T	snv	2.8E-05	1.7E-04	2
rs149344567	KCND3	0.925	0.120	1	111776247	missense variant	C/T	snv	6.4E-05	5.6E-05	2
rs10081254	ADCYAP1R1	1.000	0.040	7	31082056	intron variant	C/T	snv		0.12	1
rs147316959	KCNJ8 ; LOC105369689	1.000	0.040	12	21765962	missense variant	C/T	snv	9.9E-05	3.1E-04	1
rs368660364	SNTA1	1.000	0.040	20	33408748	missense variant	C/T	snv	1.6E-05	2.8E-05	1
rs794728448	KCNH2	0.724	0.280	7	150948445	frameshift variant	CT/G	delins			17
rs80356779	CPT1A	0.776	0.320	11	68780662	missense variant	G/A	snv	3.2E-05	5.6E-05	10
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
rs2266782	FMO3	0.851	0.200	1	171107825	missense variant	G/A	snv	0.37	0.41	7
rs1130183	KCNJ10	0.827	0.160	1	160041722	missense variant	G/A	snv	4.6E-02	4.7E-02	6
rs2075575	AQP4-AS1 ; AQP4	0.851	0.200	18	26866562	intron variant	G/A	snv		0.31	5
rs9951307	AQP4-AS1	0.882	0.120	18	26850565	intron variant	G/A	snv		0.65	5
rs121434278	ACADM	0.882	0.120	1	75740094	missense variant	G/A	snv	4.0E-05	7.0E-05	3
rs2267734	ADCYAP1R1	1.000	0.040	7	31095857	intron variant	G/A	snv		0.56	1
rs758995	ADCYAP1R1	1.000	0.040	7	31064948	intron variant	G/A	snv	0.12	0.17	1
rs8192597	ADCYAP1	1.000	0.040	18	907674	synonymous variant	G/A	snv	0.73	0.67	1
rs899127658	F2	0.547	0.720	11	46739084	missense variant	G/A;C	snv			82
rs2069705	IFNG-AS1 ; IFNG	0.695	0.440	12	68161231	intron variant	G/A;C	snv			19