DisGeNET - a database of gene-disease associations

List of associated variants

Spinocerebellar Ataxia Type 5, C0752123

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
rs397514749	SPTBN2	1.000	0.080	11	66707731	missense variant	G/A	snv			2
rs1292187704	ANGPTL1 ; RALGPS2	1.000	0.080	1	178865019	missense variant	G/A	snv		7.0E-06	1
rs755635155	PITX2	1.000	0.080	4	110618321	missense variant	A/G	snv	4.0E-06		1
rs121918306	SPTBN2	1.000	0.080	11	66713645	missense variant	A/G	snv			1
rs1554984881	SPTBN2	1.000	0.080	11	66705399	missense variant	A/G	snv			1
rs1554986337	SPTBN2	1.000	0.080	11	66708181	missense variant	C/T	snv			1
rs875989881	SPTBN2	1.000	0.080	11	66715235	missense variant	A/G	snv			1