DisGeNET - a database of gene-disease associations

List of associated variants

Deficiency of aromatic-L-amino-acid decarboxylase, C1291564

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
rs142110773	FIGNL1 ; DDC	0.882	0.160	7	50463317	missense variant	G/A	snv	1.6E-05	7.0E-06	13
rs771317809	DDC ; FIGNL1	0.925	0.080	7	50470140	missense variant	C/T	snv	8.0E-06		6
rs1554411234	DDC ; FIGNL1	1.000		7	50463322	missense variant	C/A	snv			5
rs137853208	FIGNL1 ; DDC	0.925	0.080	7	50504025	missense variant	G/A	snv			3
rs766408460	DDC	0.925	0.080	7	50544079	missense variant	C/T	snv	2.0E-05		2
rs201951824	DDC ; FIGNL1	0.925	0.080	7	50476625	missense variant	C/T	snv	4.8E-05	2.8E-05	2
rs1181496880	DDC ; FIGNL1 ; DDC-AS1	0.925	0.080	7	50539915	missense variant	C/A;G	snv	4.0E-06		2
rs1285477390	FIGNL1 ; DDC-AS1 ; DDC	0.925	0.080	7	50539944	missense variant	C/T	snv	1.2E-05	3.5E-05	2
rs746244631	FIGNL1 ; DDC ; DDC-AS1	0.925	0.080	7	50539970	missense variant	G/A	snv	1.6E-05		2
rs780542462	DDC-AS1 ; DDC	1.000		7	50543946	missense variant	G/A;T	snv	1.2E-05		1
rs137853209	DDC ; FIGNL1	1.000		7	50495369	missense variant	A/G	snv			1
rs137853207	DDC ; FIGNL1 ; DDC-AS1	1.000		7	50539926	missense variant	C/T	snv	4.0E-06	7.0E-06	1
rs137853211	DDC ; FIGNL1 ; DDC-AS1	1.000		7	50539958	missense variant	G/A;T	snv	3.6E-05		1
rs1276093487	FIGNL1 ; DDC	1.000		7	50470173	splice acceptor variant	T/C	snv			1
rs137853210	FIGNL1 ; DDC	1.000		7	50529339	missense variant	T/G	snv			1
rs137853212	FIGNL1 ; DDC	1.000		7	50499201	missense variant	C/G;T	snv	1.2E-05		1