DisGeNET - a database of gene-disease associations

List of associated variants

Pseudoachondroplasia, C0410538

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
rs137852655	COMP	0.925	0.080	19	18783125	missense variant	C/T	snv			2
rs1555791556	COMP	0.925	0.080	19	18787500	missense variant	C/A	snv			2
rs193922900	COMP	0.925	0.080	19	18786035	inframe insertion	TCG/-;TCGTCG;TCGTCGTCG	delins			2
rs1359984033	COMP	1.000	0.080	19	18785789	missense variant	C/T	snv	4.0E-06		1
rs137852650	COMP	1.000	0.080	19	18786040	missense variant	C/A	snv			1
rs137852651	COMP	1.000	0.080	19	18786051	missense variant	C/T	snv			1
rs137852653	COMP	1.000	0.080	19	18787644	missense variant	A/G	snv			1
rs137852656	COMP	1.000	0.080	19	18787584	missense variant	A/G	snv			1
rs142274526	COMP	1.000	0.080	19	18787572	missense variant	G/A;C	snv	2.8E-05; 4.0E-06		1
rs28936669	COMP	1.000	0.080	19	18786036	missense variant	T/C	snv			1
rs312262899	COMP	1.000	0.080	19	18785063	missense variant	C/G;T	snv			1
rs312262900	COMP	1.000	0.080	19	18785056	missense variant	G/A;C;T	snv			1
rs312262901	COMP	1.000	0.080	19	18785050	missense variant	T/C	snv			1
rs312262903	COMP	1.000	0.080	19	18785755	missense variant	G/A	snv			1
rs312262904	COMP	1.000	0.080	19	18783126	missense variant	C/T	snv			1
rs557483957	COMP	1.000	0.080	19	18788654	missense variant	G/A	snv	2.4E-04	2.4E-04	1