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
rs104893904	NKX2-5	0.807	0.160	5	173235023	missense variant	C/G	snv	1.1E-03	7.1E-04	6
rs1323833193	EGF	0.851	0.160	4	109994859	missense variant	C/G	snv	4.0E-06		4
rs778423815	TP73	0.925	0.120	1	3707661	missense variant	C/G	snv	4.4E-05	1.4E-05	2
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs142569954	EDNRB	0.882	0.160	13	77918396	missense variant	C/G;T	snv	4.1E-06; 2.1E-05		3
rs2424913	DNMT3B	0.708	0.440	20	32786453	intron variant	C/T	snv	0.56	0.53	18
rs1359880314	SLC19A1	0.763	0.320	21	45534541	synonymous variant	C/T	snv	1.6E-05	2.8E-05	12
rs1532268	MTRR	0.776	0.280	5	7878066	missense variant	C/T	snv	0.31	0.32	12
rs3774207	CRELD1	0.851	0.160	3	9943972	synonymous variant	C/T	snv	0.27	0.38	4
rs749628781	CRELD1	0.882	0.160	3	9934538	missense variant	C/T	snv	4.0E-06		3
rs779011920	CBS	0.882	0.160	21	43066299	missense variant	C/T	snv	8.0E-06		3
rs11254	ETS2	0.925	0.120	21	38824464	3 prime UTR variant	C/T	snv		0.34	2
rs1445106099	SLC19A1	0.925	0.120	21	45531596	missense variant	C/T	snv	4.0E-06		2
rs1496770	MAGI2	0.925	0.120	7	78629694	intron variant	C/T	snv		0.43	2
rs199683090	SLC19A1	0.925	0.120	21	45531476	missense variant	C/T	snv			2
rs2070531	ETS2	0.925	0.120	21	38822292	intron variant	C/T	snv		0.35	2
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs2236225	MTHFD1	0.614	0.640	14	64442127	missense variant	G/A	snv	0.44	0.38	52
rs1979277	SHMT1	0.620	0.560	17	18328782	missense variant	G/A	snv	0.27	0.31	45
rs368087026	SLC19A1	0.637	0.520	21	45530890	missense variant	G/A	snv			33
rs28936670	NKX2-5	0.708	0.280	5	173235011	missense variant	G/A	snv	3.4E-03	1.1E-02	17
rs3733890	BHMT ; DMGDH	0.708	0.480	5	79126136	missense variant	G/A	snv	0.30	0.28	16
rs2305764	MYO9B	0.776	0.360	19	17203024	non coding transcript exon variant	G/A	snv	0.52	0.50	10
rs562625029	CBS	0.827	0.280	21	43058192	stop gained	G/A	snv			5
rs755981922	CRELD1	0.851	0.160	3	9943440	missense variant	G/A	snv	8.0E-06	2.1E-05	4