DisGeNET - a database of gene-disease associations

List of associated variants

Complete Trisomy 21 Syndrome, C4521042

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
rs11254	ETS2	0.925	0.120	21	38824464	3 prime UTR variant	C/T	snv		0.34	2
rs2070531	ETS2	0.925	0.120	21	38822292	intron variant	C/T	snv		0.35	2
rs1496770	MAGI2	0.925	0.120	7	78629694	intron variant	C/T	snv		0.43	2
rs9640699	MAGI2	0.925	0.120	7	78366115	intron variant	A/C	snv		0.58	2
rs10763976	PARD3	0.925	0.120	10	34275364	intron variant	G/A	snv		0.42	2
rs2073416	SIM2	0.925	0.120	21	36744739	synonymous variant	G/A;T	snv	0.22		2
rs2073601	SIM2	0.925	0.120	21	36745007	missense variant	C/A;T	snv	0.28; 2.4E-05		2
rs1215380342	SLC19A1	0.925	0.120	21	45531505	missense variant	G/A	snv	8.0E-06		2
rs1445106099	SLC19A1	0.925	0.120	21	45531596	missense variant	C/T	snv	4.0E-06		2
rs199683090	SLC19A1	0.925	0.120	21	45531476	missense variant	C/T	snv			2
rs778423815	TP73	0.925	0.120	1	3707661	missense variant	C/G	snv	4.4E-05	1.4E-05	2
rs1331959399	TWIST1	0.925	0.120	7	19117256	synonymous variant	T/C	snv			2
rs363430	BACH1 ; GRIK1-AS2 ; GRIK1	0.882	0.160	21	29598863	synonymous variant	G/A	snv	0.18	0.17	3
rs9024	CBR1 ; LOC100133286 ; SETD4	0.882	0.160	21	36073015	3 prime UTR variant	G/A	snv		9.7E-02	3
rs771748290	CBS	0.882	0.160	21	43072114	missense variant	C/A;T	snv	8.1E-06; 8.1E-06		3
rs779011920	CBS	0.882	0.160	21	43066299	missense variant	C/T	snv	8.0E-06		3
rs749628781	CRELD1	0.882	0.160	3	9934538	missense variant	C/T	snv	4.0E-06		3
rs142569954	EDNRB	0.882	0.160	13	77918396	missense variant	C/G;T	snv	4.1E-06; 2.1E-05		3
rs5349	EDNRB-AS1 ; EDNRB	0.882	0.160	13	77903530	synonymous variant	G/A	snv	5.5E-03	1.1E-02	3
rs461155	ETS2	0.925	0.120	21	38819714	synonymous variant	A/G;T	snv	0.72; 4.0E-06		3
rs363538	GRIK1	0.882	0.160	21	29689750	synonymous variant	T/A;G	snv	0.20		3
rs363504	GRIK1 ; BACH1	0.882	0.160	21	29553607	stop gained	A/G;T	snv	6.7E-02		3
rs6962966	MAGI2	0.925	0.120	7	78174806	intron variant	A/G	snv		0.50	3
rs769233111	NKX2-5	0.882	0.160	5	173235071	missense variant	G/A	snv	6.7E-05	2.1E-05	3
rs2506004	RET	0.882	0.160	10	43086825	intron variant	A/C;T	snv			3