DisGeNET - a database of gene-disease associations

List of associated variants

Nuchal bleb, familial, C0948242

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
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs268	LPL	0.637	0.480	8	19956018	missense variant	A/G	snv	1.3E-02	1.3E-02	41
rs662799	APOA5	0.689	0.480	11	116792991	upstream gene variant	G/A	snv		0.90	33
rs3135506	APOA5	0.708	0.400	11	116791691	missense variant	G/A;C	snv	3.0E-05; 6.8E-02		26
rs2266788	APOA5 ; ZPR1	0.763	0.440	11	116789970	3 prime UTR variant	G/A	snv		0.93	19
rs651821	APOA5	0.851	0.360	11	116791863	5 prime UTR variant	C/T	snv	0.88	0.89	17
rs118204057	LPL	0.732	0.400	8	19954222	missense variant	G/A;C	snv	1.9E-04		16
rs2075291	APOA5 ; ZPR1	0.752	0.400	11	116790676	missense variant	C/A;T	snv	6.4E-03; 4.0E-06		15
rs150599989	C5AR2	0.827	0.320	19	47341767	missense variant	G/A;C;T	snv	4.0E-06; 9.6E-05		5