DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: CSF1R ×

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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	Num. diseases
rs1561904557	CSF1R	0.851	0.160	5	150056050	missense variant	GGAT/TGCC	mnv		9
rs917027829	CSF1R	1.000		5	150069942	stop gained	G/A;T	snv	4.0E-06	3
rs1057519802	CSF1R			5	150061765	missense variant	A/C	snv		2
rs121913390	CSF1R			5	150073481	stop gained	A/G;T	snv		2
rs121913393	CSF1R			5	150054083	missense variant	A/G	snv		2
rs1801271	CSF1R			5	150054082	missense variant	T/A;C	snv		2
rs1561901881	CSF1R	1.000	0.080	5	150054414	missense variant	C/G	snv		1
rs1561905293	CSF1R	1.000	0.080	5	150056335	missense variant	G/A	snv		1
rs121913392	CSF1R			5	150054081	stop gained	A/C;T	snv		1
rs1057520014	CSF1R			5	150073480	missense variant	C/A	snv		1
rs587777247	CSF1R	1.000	0.040	5	150056319	missense variant	G/A;T	snv		1
rs281860281	CSF1R	1.000	0.040	5	150056316	missense variant	C/A;T	snv		1
rs281860273	CSF1R	1.000	0.040	5	150056337	missense variant	A/T	snv		1
rs281860280	CSF1R	1.000	0.040	5	150055259	missense variant	G/T	snv		1
rs281860269	CSF1R	1.000	0.040	5	150060934	missense variant	C/T	snv		1
rs690016555	CSF1R	1.000	0.040	5	150056052	missense variant	A/T	snv		1
rs397515557	CSF1R	1.000	0.040	5	150056097	missense variant	A/G	snv		1
rs690016553	CSF1R	1.000	0.040	5	150054384	missense variant	G/A	snv		1
rs690016550	CSF1R	1.000	0.040	5	150056100	missense variant	A/G	snv		1
rs690016549	CSF1R	1.000	0.040	5	150056130	missense variant	A/G;T	snv		1
rs690016556	CSF1R	1.000	0.040	5	150055262	stop gained	G/A	snv		1
rs281860275	CSF1R	1.000	0.040	5	150056214	splice region variant	C/G	snv		1
rs690016548	CSF1R	0.925	0.080	5	150056331	missense variant	C/T	snv		1
rs387906662	CSF1R	1.000	0.040	5	150056071	missense variant	C/A	snv		1
rs690016554	CSF1R	1.000	0.040	5	150054432	splice acceptor variant	T/C	snv		1