DisGeNET - a database of gene-disease associations

List of associated variants

Abnormality of the skull, C0235942

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
rs1569355102	DYRK1A	0.695	0.360	21	37472869	frameshift variant	TAAC/-	delins			51
rs79184941	FGFR2	0.617	0.600	10	121520163	missense variant	G/A;C	snv	5.6E-05; 4.0E-06		41
rs77543610	FGFR2	0.667	0.560	10	121520160	missense variant	G/C	snv			28
rs398122965	TBC1D24	0.807	0.280	16	2496872	missense variant	C/T	snv	1.2E-05	2.8E-05	13
rs398122967	TBC1D24	0.827	0.280	16	2498262	frameshift variant	T/-	del	7.4E-05	4.9E-05	12
rs201257588	TBC1D24	0.882	0.280	16	2496206	stop gained	C/G;T	snv	6.0E-05		9
rs398122966	TBC1D24	0.882	0.280	16	2496266	missense variant	C/T	snv	8.0E-06		9
rs398122968	TBC1D24	0.882	0.280	16	2499425	splice region variant	G/A	snv			9
rs747821285	TBC1D24	0.882	0.280	16	2496476	missense variant	G/A	snv	4.1E-06		9
rs760474458	TBC1D24	0.882	0.280	16	2496267	missense variant	G/A;C;T	snv	4.0E-06; 2.0E-05; 4.0E-06		9
rs797044548	TBC1D24	0.882	0.280	16	2498253	missense variant	G/T	snv			9