DisGeNET - a database of gene-disease associations

List of associated variants

Ataxia Telangiectasia, C0004135

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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1042713	ADRB2	0.576	0.800	5	148826877	missense variant	G/A	snv	0.42	0.43	63
rs28904921	C11orf65 ; ATM	0.763	0.320	11	108329202	missense variant	T/G	snv	4.0E-05	6.3E-05	12
rs1555119899	ATM ; C11orf65	0.925	0.240	11	108326149	missense variant	G/C	snv			7
rs769142993	ATM ; C11orf65	0.851	0.280	11	108331498	missense variant	G/C;T	snv	2.4E-05	7.0E-06	7
rs750893877	TP53	0.807	0.320	17	7674258	synonymous variant	G/A	snv	8.0E-06		7
rs1057518965	ATM	0.882	0.320	11	108244812	frameshift variant	A/-	delins			5
rs587779826	ATM	0.851	0.360	11	108267344	splice donor variant	T/C	snv	4.0E-06		5
rs587781823	ATM	0.851	0.280	11	108284370	frameshift variant	-/T	delins			5
rs768362387	ATM	0.851	0.360	11	108253846	stop gained	C/A	snv			5
rs587782652	ATM ; C11orf65	0.851	0.320	11	108335105	missense variant	T/C	snv	3.2E-05	4.2E-05	5
rs376676328	C11orf65 ; ATM	0.882	0.280	11	108353828	missense variant	A/G	snv	2.2E-04	1.8E-04	5
rs532480170	C11orf65 ; ATM	0.882	0.280	11	108316015	stop gained	C/A;T	snv	1.2E-05; 4.0E-06		5
rs564652222	C11orf65 ; ATM	0.925	0.280	11	108325416	missense variant	C/A;T	snv		1.4E-05	5
rs587776551	ATM	1.000	0.200	11	108281168	missense variant	G/A;T	snv	1.6E-05	1.4E-05	4
rs758081262	ATM	0.851	0.360	11	108267258	stop gained	C/T	snv	1.2E-05		4
rs772821016	ATM	0.882	0.320	11	108244873	stop gained	C/T	snv	4.0E-06		4
rs786201675	ATM	0.925	0.320	11	108282838	frameshift variant	TTATT/-	delins			4
rs17174393	ATM ; C11orf65	0.882	0.280	11	108353881	splice donor variant	G/A;C;T	snv	1.6E-05		4
rs587779872	ATM ; C11orf65	1.000	0.200	11	108345818	missense variant	C/T	snv	3.2E-05	1.4E-05	4
rs587781894	ATM ; C11orf65	0.882	0.360	11	108365360	missense variant	G/A;C	snv	8.0E-06	7.0E-06	4
rs770641163	ATM ; C11orf65	0.882	0.360	11	108365208	stop gained	C/G;T	snv	4.0E-06; 1.2E-05		4