DisGeNET - a database of gene-disease associations

List of associated variants

Histiocytosis, Langerhans-Cell, C0019621

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913254	NRAS	0.658	0.440	1	114713909	stop gained	G/A;C;T	snv			31
rs121913238	KRAS	0.732	0.240	12	25227343	missense variant	G/C;T	snv			17
rs121912520	GTF2A1L ; STON1-GTF2A1L ; LHCGR	0.851	0.240	2	48688020	missense variant	C/G	snv			4
rs746394859	CD44	0.882	0.120	11	35229182	missense variant	A/G	snv	4.0E-06		3
rs121912525	STON1-GTF2A1L ; LHCGR ; GTF2A1L	0.882	0.240	2	48687950	missense variant	G/T	snv	2.0E-05	4.9E-05	3
rs121912523	GTF2A1L ; LHCGR ; STON1-GTF2A1L	0.925	0.240	2	48688162	stop gained	G/T	snv	8.0E-06		2
rs61755294	CD44	1.000	0.080	11	35221671	missense variant	G/A;C	snv	1.2E-05; 8.0E-06		1
rs12470652	GTF2A1L ; STON1-GTF2A1L ; LHCGR	1.000	0.080	2	48694299	missense variant	T/C	snv	3.8E-02	3.8E-02	1
rs917607255	LHCGR ; STON1-GTF2A1L	1.000	0.080	2	48755643	missense variant	A/G	snv			1
rs1183057432	RAF1	1.000	0.080	3	12584570	missense variant	T/C	snv	4.0E-06		1