DisGeNET - a database of gene-disease associations

List of associated variants

Cerebral Palsy, C0007789

Source: CURATED ×

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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
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		6
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv		0.71	1
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	2
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	1
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	1
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	29
rs1799724	LTA ; TNF	0.600	0.680	6	31574705	upstream gene variant	C/T	snv		8.5E-02	2
rs405509	APOE	0.667	0.480	19	44905579	upstream gene variant	T/G	snv		0.58	9
rs9651118	MTHFR	0.683	0.480	1	11802157	intron variant	T/C	snv		0.18	2
rs121918455	PTPN11	0.695	0.440	12	112477720	missense variant	A/C;G	snv			31
rs780533096	MIPEP	0.701	0.600	13	23886338	missense variant	C/G;T	snv	4.8E-06; 9.6E-06		44
rs1345176461	LOC107984638 ; IRF2BPL	0.716	0.240	14	77027231	stop gained	G/A;T	snv	4.3E-06		40
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv			40
rs2069837	IL6-AS1 ; IL6	0.724	0.520	7	22728408	intron variant	A/C;G	snv			2
rs61749721	MECP2	0.732	0.200	X	154031065	stop gained	G/A	snv			15
rs3024490	IL10 ; IL19	0.742	0.520	1	206771966	intron variant	A/C;G;T	snv			1
rs1554208945	ZNF292	0.752	0.240	6	87260207	missense variant	A/C	snv			26
rs28936415	PMM2	0.752	0.320	16	8811153	missense variant	G/A	snv	4.1E-03	3.7E-03	22
rs4846049	C1orf167 ; MTHFR	0.776	0.360	1	11790308	3 prime UTR variant	T/A;G	snv			1
rs6568431	ATG5	0.790	0.320	6	106140931	intron variant	A/C	snv		0.61	3
rs1476413	MTHFR	0.790	0.360	1	11792243	intron variant	C/G;T	snv	4.0E-06; 0.26	0.23	1
rs1131692230	PDHA1	0.807	0.160	X	19353124	missense variant	A/G	snv			9
rs756421370	MECR	0.807	0.120	1	29200513	splice donor variant	-/A	delins	1.4E-04	6.3E-05	8
rs1553630279	CTNNB1	0.807	0.160	3	41225049	stop gained	C/T	snv			7
rs1555377415	IRF2BPL ; LOC107984638	0.827	0.200	14	77027274	stop gained	G/C	snv			18