DisGeNET - a database of gene-disease associations

List of associated variants

Nevus comedonicus, C0265987

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
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
rs6471	CYP21A2	0.683	0.360	6	32040110	missense variant	G/A;C;T	snv	1.2E-05; 5.3E-03		24
rs9378251	CYP21A2	0.776	0.320	6	32038514	missense variant	C/T	snv	9.2E-05	5.4E-04	8
rs6475	CYP21A2	0.807	0.320	6	32039426	missense variant	T/A	snv	4.8E-04	1.2E-03	7
rs879253775	NEK9	1.000	0.120	14	75120534	missense variant	A/G	snv			1
rs1555352529	NEK9 ; ZC2HC1C	1.000	0.120	14	75103855	missense variant	A/G	snv			1