DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: SLC9A6 ×

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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
rs1569525894	SLC9A6	0.790	0.280	X	136040055	frameshift variant	TCTTCCTTAACCACCGC/-	delins			14
rs1064793575	SLC9A6	0.925	0.040	X	136016706	frameshift variant	GT/-	delins			6
rs796053290	SLC9A6	0.925	0.280	X	135998095	splice region variant	TTTTA/-	delins			2
rs1057519394	SLC9A6	1.000	0.280	X	136002195	frameshift variant	T/-	delins			2
rs730882187	SLC9A6	1.000	0.280	X	135998188	splice region variant	AA/CC	mnv			1
rs398123003	SLC9A6	1.000	0.280	X	136030154	stop gained	G/T	snv			1
rs122461162	SLC9A6	1.000	0.280	X	136024365	stop gained	C/T	snv			1
rs1569525357	SLC9A6	1.000	0.280	X	136024339	missense variant	G/A	snv			1
rs730882188	SLC9A6	1.000	0.280	X	135998486	frameshift variant	AT/-	del			1
rs886037619	SLC9A6	1.000	0.280	X	136002171	inframe deletion	AAAGTG/-	delins			1
rs1556617455	SLC9A6	1.000	0.280	X	136002214	splice donor variant	G/A	snv			1
rs587784398	SLC9A6	1.000	0.280	X	135985685	frameshift variant	G/-	del			1
rs398122849	SLC9A6	1.000	0.280	X	136010554	inframe deletion	GGTGCTGCT/-	del			1
rs587784399	SLC9A6	1.000	0.280	X	136044696	stop gained	T/G	snv			1