DisGeNET - a database of gene-disease associations

List of associated variants

MOHR-TRANEBJAERG SYNDROME, C0796074

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs1060503115	PMS2	0.763	0.400	7	5978664	missense variant	T/A;G	snv			13
rs886039809	KIAA0586	0.807	0.480	14	58498824	frameshift variant	A/-	del			11
rs886039807	TMEM231	0.776	0.480	16	75541466	non coding transcript exon variant	A/G	snv	4.2E-06		11
rs886039794	LRRCC1 ; LOC105375933	0.851	0.480	8	85109594	splice acceptor variant	G/C	snv			8
rs104894003	ACTB	0.827	0.320	7	5528536	missense variant	G/A	snv			7
rs2020912	MSH6 ; FBXO11	0.807	0.480	2	47800616	missense variant	T/C;G	snv	5.1E-03		7
rs886039808	CEP290	0.851	0.480	12	88083848	stop gained	C/T	snv			5
rs886039810	TMEM67	0.851	0.480	8	93809830	missense variant	G/C	snv			5
rs111033631	TIMM8A	0.925	0.280	X	101348595	stop gained	C/A;G	snv	5.5E-06		2
rs1054894	TIMM8A	1.000	0.280	X	101346555	stop gained	G/A	snv			1
rs80356559	TIMM8A	1.000	0.280	X	101348553	stop gained	G/A	snv			1
rs80356560	TIMM8A	1.000	0.280	X	101346595	missense variant	G/C	snv			1
rs869320664	TIMM8A	1.000	0.280	X	101348549	frameshift variant	A/-	del			1
rs869320665	TIMM8A	1.000	0.280	X	101348592	frameshift variant	C/-	delins			1
rs869320666	TIMM8A	1.000	0.280	X	101346683	3 prime UTR variant	T/G	snv			1
rs869320667	TIMM8A	1.000	0.280	X	101348538	frameshift variant	A/-	delins			1
rs869320733	TIMM8A	1.000	0.280	X	101346636	frameshift variant	CCCAGGCTTG/-	delins			1