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
rs8192597	ADCYAP1	1.000	0.040	18	907674	synonymous variant	G/A	snv	0.73	0.67	1
rs2266782	FMO3	0.851	0.200	1	171107825	missense variant	G/A	snv	0.37	0.41	7
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs2856966	ADCYAP1	0.925	0.080	18	907709	missense variant	A/G	snv	0.19	0.18	2
rs1805123	KCNH2	0.724	0.280	7	150948446	missense variant	T/A;C;G	snv	1.3E-05; 0.18; 8.4E-06		18
rs758995	ADCYAP1R1	1.000	0.040	7	31064948	intron variant	G/A	snv	0.12	0.17	1
rs1130183	KCNJ10	0.827	0.160	1	160041722	missense variant	G/A	snv	4.6E-02	4.7E-02	6
rs7626962	SCN5A	0.790	0.080	3	38579416	missense variant	G/A;T	snv	1.6E-05; 5.9E-03		10
rs77931234	ACADM	0.925	0.120	1	75761161	missense variant	A/C;G	snv	3.3E-03		3
rs72546668	SSUH2 ; CAV3	0.807	0.200	3	8745644	missense variant	C/A;T	snv	4.0E-06; 2.6E-03		8
rs72552293	GPD1L	0.925	0.120	3	32140231	missense variant	A/G	snv	2.5E-03	2.9E-03	2
rs116840776	SSUH2 ; CAV3	1.000	0.040	3	8745627	missense variant	C/G	snv	1.4E-03	1.6E-03	2
rs121909281	CAV3 ; SSUH2	0.925	0.120	3	8733916	missense variant	G/A;C	snv	4.3E-04		2
rs199472728	KCNQ1	0.925	0.120	11	2572885	missense variant	A/G	snv	1.8E-04	1.3E-04	2
rs147316959	KCNJ8 ; LOC105369689	1.000	0.040	12	21765962	missense variant	C/T	snv	9.9E-05	3.1E-04	1
rs137854609	SCN5A	0.882	0.120	3	38581170	missense variant	C/A;T	snv	7.9E-05		3
rs149344567	KCND3	0.925	0.120	1	111776247	missense variant	C/T	snv	6.4E-05	5.6E-05	2
rs199473320	SCN5A	0.882	0.120	3	38550878	missense variant	G/C	snv	6.0E-05	4.0E-04	3
rs757532106	SCN5A	0.763	0.120	3	38550500	stop gained	G/A	snv	4.5E-05	4.9E-05	9
rs121434278	ACADM	0.882	0.120	1	75740094	missense variant	G/A	snv	4.0E-05	7.0E-05	3
rs80356779	CPT1A	0.776	0.320	11	68780662	missense variant	G/A	snv	3.2E-05	5.6E-05	10
rs137854610	SCN5A	0.925	0.120	3	38550895	missense variant	C/T	snv	2.8E-05	1.7E-04	2
rs199473573	SCN5A	0.925	0.120	3	38604007	missense variant	A/C	snv	1.6E-05	7.0E-06	2
rs368660364	SNTA1	1.000	0.040	20	33408748	missense variant	C/T	snv	1.6E-05	2.8E-05	1