DisGeNET - a database of gene-disease associations

List of associated variants

Fasciculation, Tongue, C0239548

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
rs1555727493	KMT2B	0.742	0.480	19	35718020	frameshift variant	-/GGCGGGCGGCGGC	delins			46
rs727502818	KCNC1	0.790	0.160	11	17772053	missense variant	G/A	snv			26
rs1554699491	AGTPBP1	0.763	0.280	9	85596450	splice acceptor variant	C/A	snv			23
rs780631499	AGTPBP1	0.763	0.280	9	85588465	frameshift variant	G/-	del	4.0E-06	7.0E-06	23
rs1421405659	MYBPC1	0.851	0.360	12	101642529	missense variant	T/C;G	snv			13
rs1561498701	SMN1 ; SMN2	1.000	0.080	5	70925150	frameshift variant	-/GGATTCCG	delins			5
rs1170466474	SMN2 ; SMN1	1.000	0.040	5	70925180	missense variant	G/A	snv	8.2E-05		3