DisGeNET - a database of gene-disease associations

List of associated variants

Cafe-au-Lait Spots, C0221263

Source: CURATED ×

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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
rs1135402867	NF1	1.000	0.120	17	31325978	frameshift variant	T/-;TT	delins			2
rs137852814	SOS1	0.752	0.240	2	39022774	missense variant	T/A;C	snv	4.0E-06		16
rs727503109	KRAS	0.752	0.320	12	25245277	missense variant	T/C	snv			17
rs1057518842	NF1	1.000	0.080	17	31227215	splice region variant	T/G	snv			5
rs1560419312	KIT	1.000	0.120	4	54729344	missense variant	T/G	snv			4
rs1569355102	DYRK1A	0.695	0.360	21	37472869	frameshift variant	TAAC/-	delins			51
rs1555535032	NF1	0.882	0.120	17	31338734	frameshift variant	TTAC/-	delins			9