DisGeNET - a database of gene-disease associations

List of shared variants

Dysmorphic features, C0432072

Disease: Muscle hypotonia

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	Chr	Position	Consequence	Alleles	Class	Num. diseases
rs1554680190	ELN	1.000	7	74056714	splice donor variant	G/T	snv	2
rs1554767317	DNM1 ; CIZ1	1.000	9	128203604	missense variant	G/A	snv	2
rs1555028206	KMT5B	1.000	11	68171705	stop gained	G/A	snv	2
rs1555036394	KMT2A	1.000	11	118473352	frameshift variant	A/-	del	2
rs1555036436	KMT2A	1.000	11	118473420	frameshift variant	C/-	delins	2
rs1555039242	KMT2A	1.000	11	118481728	frameshift variant	GA/-	delins	2
rs1555046428	KMT2A	1.000	11	118503078	frameshift variant	-/CAGAT	delins	2
rs1555052879	KMT2A ; LOC101929089	1.000	11	118519746	frameshift variant	C/-	delins	2
rs1555226081	SCN8A	1.000	12	51768899	missense variant	C/T	snv	2
rs1555226395	SYT1	1.000	12	79448945	missense variant	G/A	snv	2
rs1555247469	MED13L	1.000	12	116006413	splice acceptor variant	T/C	snv	2
rs1555321367	FOXG1	1.000	14	28768138	stop gained	A/T	snv	2
rs1555321405	FOXG1	1.000	14	28768359	frameshift variant	-/G	delins	2
rs1555379911	CHAMP1	1.000	13	114325794	stop gained	C/G	snv	2
rs1555408829	DYNC1H1	1.000	14	101994794	missense variant	T/C	snv	2
rs1555444885	SIN3A	1.000	15	75400810	stop gained	G/A	snv	2
rs1555523411	GALNS	1.000	16	88842828	missense variant	A/T	snv	2
rs1555528357	ANKRD11	1.000	16	89282837	frameshift variant	ATTT/-	delins	2
rs1555529297	ANKRD11	1.000	16	89284412	stop gained	C/T	snv	2
rs1555534189	CTCF	1.000	16	67611949	splice acceptor variant	A/G	snv	2
rs1555575085	COL1A1	1.000	17	50199309	missense variant	C/A	snv	2
rs1555661506	TLK2	1.000	17	62602067	frameshift variant	A/-	del	2
rs1555706391	SETBP1	1.000	18	44950745	frameshift variant	A/-	delins	2
rs1555710171	TCF4	1.000	18	55228904	inframe deletion	GTCTGGGGCTTG/-	delins	2
rs1555721837	CCDC151	1.000	19	11423933	stop gained	G/A	snv	2