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
rs1345176461	LOC107984638 ; IRF2BPL	0.716	0.240	14	77027231	stop gained	G/A;T	snv	4.3E-06		40
rs1555377415	IRF2BPL ; LOC107984638	0.827	0.200	14	77027274	stop gained	G/C	snv			18
rs28936415	PMM2	0.752	0.320	16	8811153	missense variant	G/A	snv	4.1E-03	3.7E-03	22
rs80338700	PMM2	0.851	0.200	16	8806398	missense variant	C/G;T	snv	4.0E-06; 2.4E-05		7
rs937726878	PMM2 ; TMEM186	0.882	0.240	16	8797949	splice donor variant	G/T	snv	1.4E-05	7.0E-06	3
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	29
rs606231435	ATP1A3	0.827	0.240	19	41970539	missense variant	C/T	snv			17
rs405509	APOE	0.667	0.480	19	44905579	upstream gene variant	T/G	snv		0.58	9
rs769446	APOE	0.882	0.120	19	44905371	upstream gene variant	T/C	snv		7.0E-02	4
rs767399782	TUBB4A	0.925	0.120	19	6495736	missense variant	C/A;T	snv	4.0E-06		2
rs121918399	APOE	0.925	0.120	19	44907843	missense variant	C/T	snv	8.0E-06		1
rs59007384	TOMM40	0.851	0.080	19	44893408	intron variant	G/A;T	snv			1
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv			40
rs61749721	MECP2	0.732	0.200	X	154031065	stop gained	G/A	snv			15
rs1131692230	PDHA1	0.807	0.160	X	19353124	missense variant	A/G	snv			9