DisGeNET - a database of gene-disease associations

List of associated variants

Deep palmar crease, C1857539

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
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			73
rs587784347	PLA2G6	0.742	0.280	22	38113561	missense variant	G/A	snv	8.0E-06		38
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			27
rs1559470315	CTNNB1	0.732	0.320	3	41227287	protein altering variant	CCACAAGCAG/T	delins			26
rs121918467	PTPN11	0.807	0.280	12	112486482	missense variant	C/A;T	snv	8.0E-06; 1.2E-05		23
rs387907260	KCTD7	0.776	0.280	7	66633410	missense variant	C/T	snv	4.0E-06	1.4E-05	22
rs796052686	KCTD7	0.776	0.280	7	66638394	missense variant	G/A	snv	1.2E-05		22