DisGeNET - a database of gene-disease associations

List of associated variants

Sezary Syndrome, C0036920

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
rs112445441	KRAS	0.658	0.400	12	25245347	missense variant	C/A;G;T	snv			32
rs121913254	NRAS	0.658	0.440	1	114713909	stop gained	G/A;C;T	snv			31
rs121434596	NRAS	0.677	0.440	1	114716123	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		26
rs121913238	KRAS	0.732	0.240	12	25227343	missense variant	G/C;T	snv			17
rs757333753	RAF1	0.851	0.200	3	12618681	missense variant	C/A;T	snv	4.0E-06		6
rs587776632	BCL10	0.925	0.120	1	85267901	frameshift variant	A/-;AAA	delins			2
rs2307859	TNFAIP3	0.925	0.120	6	137874825	intron variant	CCT/-	delins			2