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
rs1893154	ADCYAP1	0.925	0.080	18	905124	5 prime UTR variant	A/G	snv		0.72	2
rs199472728	KCNQ1	0.925	0.120	11	2572885	missense variant	A/G	snv	1.8E-04	1.3E-04	2
rs199472856	KCNH2	1.000	0.040	7	150974717	stop gained	T/A;C	snv			1
rs199473014	KCNH2	0.925	0.120	7	150947684	missense variant	G/T	snv		2.1E-05	2
rs199473097	SCN5A	0.763	0.120	3	38606710	missense variant	G/A	snv	8.0E-06	7.0E-06	9
rs199473124	SCN5A	0.851	0.120	3	38603902	missense variant	A/T	snv	8.0E-06	7.0E-06	4
rs199473190	SCN5A	1.000	0.040	3	38579474	missense variant	C/G;T	snv	8.2E-06		1
rs199473320	SCN5A	0.882	0.120	3	38550878	missense variant	G/C	snv	6.0E-05	4.0E-04	3
rs199473573	SCN5A	0.925	0.120	3	38604007	missense variant	A/C	snv	1.6E-05	7.0E-06	2
rs199473604	SCN5A	0.882	0.120	3	38560394	missense variant	G/T	snv			4
rs199473627	SCN5A	1.000	0.040	3	38551258	missense variant	A/G	snv			1
rs2069705	IFNG-AS1 ; IFNG	0.695	0.440	12	68161231	intron variant	G/A;C	snv			19
rs2069718	IFNG ; IFNG-AS1	0.742	0.320	12	68156382	intron variant	A/G;T	snv		0.50	14
rs2069727	IFNG ; IFNG-AS1	0.763	0.320	12	68154443	intron variant	T/A;C	snv			9
rs2075575	AQP4-AS1 ; AQP4	0.851	0.200	18	26866562	intron variant	G/A	snv		0.31	5
rs2266782	FMO3	0.851	0.200	1	171107825	missense variant	G/A	snv	0.37	0.41	7
rs2267734	ADCYAP1R1	1.000	0.040	7	31095857	intron variant	G/A	snv		0.56	1
rs2302475	ADCYAP1R1	1.000	0.040	7	31081886	intron variant	T/C	snv		0.48	1
rs25531	SLC6A4 ; LOC105371720	0.581	0.520	17	30237328	upstream gene variant	T/C	snv		0.18	72
rs2856966	ADCYAP1	0.925	0.080	18	907709	missense variant	A/G	snv	0.19	0.18	2
rs368660364	SNTA1	1.000	0.040	20	33408748	missense variant	C/T	snv	1.6E-05	2.8E-05	1
rs3906956	AQP4-AS1 ; AQP4	1.000	0.040	18	26856350	missense variant	A/G	snv			1
rs45546039	SCN5A	0.732	0.120	3	38613781	missense variant	C/A;T	snv	4.1E-06		15
rs4647924	FGFR3	0.600	0.520	4	1801844	missense variant	C/A;G;T	snv	4.2E-06; 4.2E-06		49
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272