DisGeNET - a database of gene-disease associations

List of associated variants

Leukodystrophy, Hypomyelinating, 6, C2676244

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	Num. diseases
rs748787734	TUBB4A	0.827	0.240	19	6495437	missense variant	G/A;C	snv	1.2E-05	13
rs587776983	TUBB4A	0.807	0.240	19	6502209	missense variant	G/A;C;T	snv		9
rs797045074	TUBB4A	0.882	0.120	19	6495335	missense variant	C/G;T	snv		7
rs483352809	TUBB4A	0.882	0.120	19	6495754	missense variant	C/T	snv		5
rs587777429	TUBB4A	1.000	0.120	19	6496032	missense variant	C/A;T	snv		3
rs767399782	TUBB4A	0.925	0.120	19	6495736	missense variant	C/A;T	snv	4.0E-06	3
rs587777428	TUBB4A	0.925	0.120	19	6495271	missense variant	C/T	snv		2
rs756762431	TUBB4A	1.000	0.120	19	6495654	missense variant	C/G;T	snv	8.0E-06	2
rs886039470	TUBB4A	1.000	0.120	19	6495714	missense variant	C/T	snv		2
rs587777467	TUBB4A	1.000	0.120	19	6502208	missense variant	C/G;T	snv	5.7E-06	1
rs587777468	TUBB4A	1.000	0.120	19	6495966	missense variant	G/A;C	snv		1
rs761635539	TUBB4A	1.000	0.120	19	6495931	missense variant	G/A	snv	4.0E-06	1
rs886041007	TUBB4A	1.000	0.120	19	6495769	missense variant	C/T	snv		1
rs886041008	TUBB4A	1.000	0.120	19	6495955	missense variant	G/T	snv		1
rs886041009	TUBB4A	1.000	0.120	19	6495783	missense variant	C/A	snv		1
rs886041010	TUBB4A	1.000	0.120	19	6495768	missense variant	C/A;T	snv		1
rs886041011	TUBB4A	1.000	0.120	19	6495625	missense variant	G/T	snv		1
rs886041012	TUBB4A	1.000	0.120	19	6495599	missense variant	C/A	snv		1
rs886041013	TUBB4A	1.000	0.120	19	6495558	missense variant	G/A	snv		1
rs886041014	TUBB4A	1.000	0.120	19	6495531	missense variant	A/C	snv		1
rs886041015	TUBB4A	1.000	0.120	19	6495445	missense variant	C/T	snv		1
rs886041016	TUBB4A	1.000	0.120	19	6495438	missense variant	C/T	snv		1
rs886041017	TUBB4A	1.000	0.120	19	6495408	missense variant	G/T	snv		1
rs886041018	TUBB4A	1.000	0.120	19	6495400	missense variant	A/G;T	snv		1
rs886041019	TUBB4A	1.000	0.120	19	6495337	missense variant	T/C	snv		1