DisGeNET - a database of gene-disease associations

List of associated variants

MYOTONIC DYSTROPHY 1, C3250443

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	53
rs2853676	TERT	0.667	0.560	5	1288432	intron variant	T/A;C	snv			29
rs3733197	BANK1	0.742	0.320	4	101918130	missense variant	G/A	snv	0.31	0.30	13
rs2292239	ERBB3	0.742	0.480	12	56088396	intron variant	T/G	snv		0.65	13
rs951005		0.807	0.200	9	34743684	intron variant	G/A	snv		0.78	10
rs11171739	ERBB3	0.807	0.320	12	56076841	5 prime UTR variant	C/T	snv		0.49	10
rs2492358		0.851	0.160	9	34737831	intron variant	C/T	snv		0.78	5
rs199472823	KCNQ1	0.851	0.240	11	2571328	missense variant	T/C	snv			5
rs1205829960	CTLA4	0.925	0.160	2	203872753	missense variant	C/G	snv		7.0E-06	2
rs762280354	DMPK	1.000	0.120	19	45777542	stop gained	G/A;C	snv	4.0E-06; 1.2E-05		1
rs185894411	MBNL1	1.000	0.120	3	152300288	missense variant	C/T	snv	3.2E-05	1.4E-05	1
rs1425492535	TNFRSF10A ; LOC389641	1.000	0.120	8	23225061	start lost	T/C	snv		1.4E-05	1