DisGeNET - a database of gene-disease associations

List of associated variants

Acidosis, Lactic, C0001125

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
rs752298579	TANGO2	0.701	0.480	22	20061538	missense variant	G/A	snv	1.4E-04	7.0E-06	48
rs139632595	EXOSC9	0.807	0.160	4	121801465	missense variant	T/C	snv	6.0E-05	2.5E-04	19
rs372949028	TANGO2	0.827	0.240	22	20061684	splice donor variant	G/A;C	snv	7.1E-05	5.6E-05	13
rs35135520	TIMM50	0.827	0.200	19	39480879	stop gained	C/A;G;T	snv	3.1E-03; 4.6E-06		12
rs776019250	TIMM50	0.827	0.200	19	39482885	stop gained	G/C;T	snv	4.0E-06		12
rs201439531	CHAT	0.827	0.200	10	49664880	missense variant	C/G	snv		7.0E-06	11
rs769234940	CHAT	0.827	0.200	10	49627735	missense variant	C/T	snv	1.6E-05	2.8E-05	11
rs1569190079	PDHA1	0.882	0.160	X	19350044	missense variant	G/T	snv			10
rs772037717	FBXL4	0.882	0.080	6	98875675	missense variant	A/G	snv	1.2E-05	1.4E-05	8
rs201650281	KARS1	0.827	0.200	16	75635982	missense variant	G/A	snv	1.4E-04	1.3E-04	8
rs1135402725	PDHX	0.851	0.120	11	34995002	stop gained	C/T	snv	1.2E-05		6
rs1567498374	KARS1	0.882	0.160	16	75630493	frameshift variant	G/-;GG	delins			5
rs1555014957	PC	1.000	0.120	11	66850270	missense variant	C/A	snv			4
rs1157637439	VARS2	0.882	0.120	6	30920187	missense variant	A/G	snv			4
rs374661051	UQCRC2 ; PDZD9	0.925	0.040	16	21965440	missense variant	C/A;G;T	snv	1.2E-05; 1.2E-05		3
rs1242465339	UQCRFS1	1.000	0.080	19	29207763	stop gained	G/A;T	snv		7.0E-06	3
rs1568344751	UQCRFS1	1.000	0.080	19	29208159	splice acceptor variant	C/G	snv			3
rs1568346416	UQCRFS1 ; LOC105372352	1.000	0.080	19	29213078	missense variant	A/T	snv			3
rs763004980	ACAD9			3	128906139	missense variant	G/A	snv	1.2E-05	1.4E-05	2
rs150283105	ACAD9 ; KIAA1257			3	128909410	missense variant	C/T	snv	7.2E-05	1.3E-04	2
rs104894375	SLC25A3	1.000	0.040	12	98595490	missense variant	G/A	snv			2