DisGeNET - a database of gene-disease associations

List of associated variants

D-2-HYDROXYGLUTARIC ACIDURIA 1, C3152055

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
rs121913502	IDH2	0.708	0.320	15	90088702	missense variant	C/A;T	snv	3.2E-05		19
rs267606870	IDH2	0.763	0.280	15	90088703	missense variant	G/A;C	snv			11
rs121434362	D2HGDH	0.882	0.120	2	241767718	missense variant	A/G	snv			3
rs267606759	D2HGDH	0.882	0.120	2	241751371	missense variant	G/A;T	snv	8.0E-06; 1.2E-05		3
rs121434368	GCDH ; SYCE2	0.925	0.120	19	12899471	missense variant	C/T	snv			2
rs1025426883	L2HGDH	0.925	0.120	14	50247167	missense variant	A/G	snv			2
rs1277384196	SYCE2 ; GCDH	0.925	0.120	19	12899507	missense variant	T/C	snv	4.0E-06		2
rs121434360	D2HGDH	1.000		2	241767734	missense variant	T/C	snv		7.0E-06	1
rs121434361	D2HGDH	1.000		2	241742524	missense variant	T/G	snv			1
rs145731647	D2HGDH	1.000		2	241741010	intron variant	A/G;T	snv	4.0E-06; 1.4E-02		1
rs1559361049	D2HGDH	1.000		2	241743772	frameshift variant	T/-	delins			1
rs1559364994	D2HGDH	1.000		2	241744879	splice donor variant	T/C	snv			1
rs587783517	D2HGDH	1.000		2	241743697	missense variant	C/T	snv	1.6E-05	1.4E-05	1
rs749330477	D2HGDH	1.000		2	241741064	frameshift variant	-/TC	delins			1
rs753528947	D2HGDH	1.000		2	241744707	splice acceptor variant	A/G	snv	2.4E-05	1.0E-04	1