DisGeNET - a database of gene-disease associations

List of associated variants

Amyloid Neuropathies, Familial, C0206245

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
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs267607161	TTR	0.742	0.360	18	31598580	missense variant	G/T	snv	4.0E-06	7.0E-06	16
rs121918075	TTR	0.752	0.280	18	31598632	missense variant	A/G	snv			15
rs121918079	TTR	0.790	0.280	18	31595143	missense variant	T/C	snv			10
rs28933981	TTR	0.807	0.200	18	31598647	missense variant	C/T	snv	1.5E-03	1.7E-03	8
rs766001707	ATXN3	0.851	0.200	14	92096772	missense variant	C/T	snv			6
rs104894664	TTR	0.882	0.120	18	31592959	missense variant	G/A	snv			6
rs121918068	TTR	0.882	0.200	18	31592983	missense variant	T/A;C	snv			6
rs545532525	LDLR	0.851	0.200	19	11110753	missense variant	G/A	snv			5
rs121918074	TTR	0.851	0.120	18	31595247	missense variant	C/A	snv	6.0E-04	3.9E-04	5
rs935577712	ATXN2	0.925	0.200	12	111552304	missense variant	T/C	snv	4.1E-06	7.0E-06	3
rs746303115	TBP	0.925	0.200	6	170561827	missense variant	A/G	snv	1.2E-05		3
rs121918069	TTR	0.925	0.200	18	31595152	missense variant	T/A;G	snv			3
rs121918086	TTR	1.000	0.120	18	31595160	missense variant	G/A	snv			3
rs145330026	DMPK			19	45778500	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06; 1.8E-04		1