DisGeNET - a database of gene-disease associations

List of associated variants

SPINOCEREBELLAR ATAXIA 29, C1861732

Source: CURATED ×

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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
rs869312685	ITPR1	0.807	0.240	3	4815135	missense variant	G/A;C	snv			11
rs886039392	ITPR1	0.882	0.240	3	4645678	missense variant	C/T	snv			4
rs1553666546	ITPR1	1.000	0.080	3	4645609	missense variant	G/A	snv			3
rs397514535	ITPR1	1.000	0.080	3	4706193	missense variant	G/A	snv			2
rs1114167316	ITPR1	1.000	0.080	3	4735314	missense variant	T/C	snv			1
rs1322796318	ITPR1	1.000	0.080	3	4665285	missense variant	A/G	snv	4.0E-06		1
rs1553756062	ITPR1	1.000	0.080	3	4811344	missense variant	T/C	snv			1
rs397514536	ITPR1	1.000	0.080	3	4667467	missense variant	A/G	snv			1
rs797044955	ITPR1	1.000	0.080	3	4645673	missense variant	C/G;T	snv			1
rs863224882	ITPR1	1.000	0.080	3	4645703	missense variant	G/T	snv			1