DisGeNET - a database of gene-disease associations

List of associated variants

Lamellar ichthyosis, type 2, C1832550

Source: UNIPROT ×

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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
rs1263698595	ABCA12	1.000	0.080	2	214982285	missense variant	A/G	snv	4.0E-06	1.4E-05	1
rs1295935868	ABCA12	1.000	0.080	2	215031849	missense variant	T/G	snv	8.0E-06	7.0E-06	1
rs1457513156	ABCA12	1.000	0.080	2	214980547	missense variant	C/A	snv	4.0E-06		1
rs181314573	ABCA12	1.000	0.080	2	214974853	missense variant	G/A	snv	1.6E-04	7.0E-05	1
rs28940268	ABCA12	1.000	0.080	2	214986563	missense variant	C/T	snv			1
rs28940269	ABCA12	0.925	0.080	2	214986566	missense variant	T/C	snv	4.8E-05	4.2E-05	1
rs28940270	ABCA12	1.000	0.080	2	214982225	missense variant	C/T	snv	4.0E-06	7.0E-06	1
rs28940271	ABCA12	1.000	0.080	2	214980608	missense variant	C/T	snv			1
rs28940568	ABCA12	1.000	0.080	2	214978830	missense variant	C/T	snv	1.2E-05	2.1E-05	1
rs763858530	ABCA12 ; SNHG31	1.000	0.080	2	214959024	missense variant	G/A;T	snv	4.0E-06; 4.0E-06		1