DisGeNET - a database of gene-disease associations

List of associated variants

Triphalangeal thumb, C0241397

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
rs199469465	SRCAP	0.672	0.560	16	30737343	stop gained	C/A;T	snv			50
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
rs1554317931	GLI3	0.851	0.080	7	42045460	frameshift variant	G/-	delins			11
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
rs587779752	LMBR1	0.882	0.120	7	156791474	intron variant	G/A	snv		7.0E-06	3
rs606231149	LMBR1	0.925	0.120	7	156791547	intron variant	A/G	snv			2
rs606231150	LMBR1	0.925	0.120	7	156791137	intron variant	T/C	snv			2
rs606231151	LMBR1	0.925	0.120	7	156791255	intron variant	G/C	snv			2
rs606231152	LMBR1	0.925	0.120	7	156791581	intron variant	A/G;T	snv			2