DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Deep plantar creases ×

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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
rs137852981	ZEB2	0.752	0.480	2	144399104	stop gained	G/A	snv			30
rs397517148	SOS1	0.776	0.200	2	39023128	missense variant	C/T	snv			26
rs121918467	PTPN11	0.807	0.280	12	112486482	missense variant	C/A;T	snv	8.0E-06; 1.2E-05		23
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		19
rs1557569831	SZT2	0.925	0.120	1	43431458	splice acceptor variant	A/G	snv			8
rs746200792	SZT2	0.925	0.120	1	43437254	inframe deletion	TGT/-	delins			8