DisGeNET - a database of gene-disease associations

List of associated variants

Occipital Encephalocele, C0014067

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs376493409	CEP290	0.742	0.280	12	88083161	stop gained	G/A;T	snv	7.0E-05		12
rs886039806	KIAA0586	0.851	0.160	14	58467887	missense variant	T/A;C;G	snv			8
rs886039811	B9D1	0.807	0.320	17	19357875	missense variant	A/G	snv	4.0E-06		6
rs886039805	CEP290	0.925	0.120	12	88129872	frameshift variant	AA/-	delins			5
rs786205508	MKS1	0.851	0.200	17	58208542	stop gained	G/A	snv			5
rs886039791	TXNDC15	0.882	0.160	5	134893572	inframe deletion	AGTTTGGCCCCTCAC/-	delins			5
rs886039804	TMEM138	0.882	0.120	11	61366050	missense variant	A/G	snv			4
rs1555202126	CEP290	0.925	0.120	12	88071929	splice region variant	G/C	snv			2