DisGeNET - a database of gene-disease associations

List of associated variants

Complete Trisomy 21 Syndrome, C4521042

Source: ALL

Results per page

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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1237063529	CBS	0.752	0.360	21	43058894	missense variant	T/G	snv	5.6E-06		13
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06		41
rs73118372	CRELD1	0.851	0.160	3	9943989	missense variant	T/C;G	snv	2.6E-02; 6.8E-05		4
rs762403278	MTHFR	0.851	0.200	1	11796244	missense variant	T/C;G	snv	1.6E-05; 4.0E-06		4
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs2435357	RET	0.790	0.240	10	43086608	intron variant	T/C	snv		0.79	8
rs2071421	ARSA	0.790	0.200	22	50625988	missense variant	T/C	snv	0.17	0.19	7
rs9878047	CRELD1	0.851	0.160	3	9943773	intron variant	T/C	snv		0.38	4
rs1331959399	TWIST1	0.925	0.120	7	19117256	synonymous variant	T/C	snv			2
rs363538	GRIK1	0.882	0.160	21	29689750	synonymous variant	T/A;G	snv	0.20		3
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs777919630	CBS	0.623	0.680	21	43062358	missense variant	G/A;T	snv	8.0E-06; 4.0E-06		40
rs373667881	TRIB1	0.827	0.160	8	125431222	missense variant	G/A;T	snv	1.1E-03		5
rs2073416	SIM2	0.925	0.120	21	36744739	synonymous variant	G/A;T	snv	0.22		2
rs1569686	DNMT3B	0.752	0.400	20	32779273	intron variant	G/A;C;T	snv			15
rs1801198	TCN2	0.677	0.400	22	30615623	missense variant	G/A;C	snv	5.6E-05; 0.57		26
rs112735431	RNF213 ; RNF213-AS1	0.683	0.320	17	80385145	missense variant	G/A;C	snv	2.6E-04; 8.0E-06		24
rs1448674651	TYMS ; ENOSF1	0.667	0.560	18	671384	missense variant	G/A;C	snv	4.0E-06		23
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