DisGeNET - a database of gene-disease associations

List of associated variants

Congenital absence of spleen, C0600031

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
rs76763715	GBA	0.658	0.520	1	155235843	missense variant	T/C;G	snv	2.3E-03		35
rs137852981	ZEB2	0.752	0.480	2	144399104	stop gained	G/A	snv			30
rs1289324472	GBA	0.716	0.400	1	155236354	missense variant	T/C	snv		1.4E-05	21
rs886039815	TCTEX1D2	0.851	0.320	3	196306939	splice region variant	T/A	snv			5
rs1057519441	C12orf60 ; GUCY2C	0.925	0.120	12	14683243	missense variant	A/G	snv			4
rs1213451480	NR5A1	1.000	0.120	9	124500652	missense variant	C/T	snv			2