DisGeNET - a database of gene-disease associations

List of associated variants

Amyloidosis, C0002726

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
rs121918100	TTR	0.827	0.160	18	31595184	missense variant	T/C	snv			11
rs12218	SAA1	0.763	0.280	11	18269774	synonymous variant	T/C	snv	0.42	0.36	11
rs1264519280	KHDRBS1	1.000	0.040	1	32014083	missense variant	G/A	snv			2
rs1294297409	TTR	1.000	0.040	18	31592996	missense variant	C/A	snv	8.0E-06		1
rs13031703	LOC105373605	0.925	0.120	2	127129099	intergenic variant	C/T	snv		0.11	2
rs1309900188	GSN	1.000	0.040	9	121312342	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		1
rs1335856860	FAP	0.925	0.120	2	162183437	missense variant	T/C	snv		7.0E-06	2
rs140226130	CCDC178	0.790	0.200	18	33336845	intron variant	-/CTTTTTGCT	delins		7.8E-02	8
rs1440063914	KIDINS220	0.925	0.080	2	8779781	missense variant	T/C	snv			2
rs1454603223	LYZ	1.000	0.040	12	69353160	missense variant	T/C	snv	4.0E-06	7.0E-06	1
rs1473654052	DOCK11	0.925	0.080	X	118542729	missense variant	A/C	snv		9.5E-06	2
rs1475170339	IGFALS ; SPSB3	0.732	0.240	16	1792325	missense variant	T/C;G	snv			18
rs17070145	WWC1	0.790	0.120	5	168418786	intron variant	C/T	snv		0.43	10
rs1800973	LYZ	0.827	0.320	12	69350234	missense variant	C/A	snv	4.2E-02	4.3E-02	9
rs200538373	ABCA7	0.925	0.120	19	1061893	splice region variant	G/A;C	snv	2.5E-03		2
rs201564694	APCS	0.882	0.120	1	159588626	missense variant	T/C	snv			3
rs2234246	TREM1	0.827	0.240	6	41276002	3 prime UTR variant	C/T	snv		0.44	5
rs2279590	CLU	0.851	0.200	8	27598736	non coding transcript exon variant	T/C	snv		0.69	5
rs237025	SUMO4 ; TAB2	0.672	0.360	6	149400554	missense variant	G/A	snv	0.55	0.57	26
rs267607161	TTR	0.742	0.360	18	31598580	missense variant	G/T	snv	4.0E-06	7.0E-06	16
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs28933981	TTR	0.807	0.200	18	31598647	missense variant	C/T	snv	1.5E-03	1.7E-03	8
rs28939068	CST3	0.790	0.200	20	23635330	missense variant	A/T	snv			9
rs28940578	MEFV	0.716	0.400	16	3243405	missense variant	C/T	snv	1.4E-04	6.3E-05	16
rs28940579	MEFV	0.732	0.440	16	3243310	missense variant	A/G;T	snv	2.2E-03; 4.0E-06		13