DisGeNET - a database of gene-disease associations

List of associated variants

Alopecia, Male Pattern, C4083212

Source: GWASDB ×

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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
rs12203592	IRF4	0.649	0.320	6	396321	intron variant	C/T	snv		0.10	5
rs1864325	MAPT	0.882	0.160	17	45900461	intron variant	C/T	snv		0.14	5
rs546433642	KANSL1	0.925	0.120	17	46172742	intron variant	T/C;G	snv			4
rs549599956	KANSL1	0.925	0.120	17	46169798	intron variant	A/G	snv			4
rs17651549	MAPT	0.882	0.160	17	45983912	missense variant	C/T	snv	0.15	0.14	4
rs12185233	SPPL2C ; MAPT-AS1	0.882	0.160	17	45846288	missense variant	G/A;C	snv	9.5E-05; 0.15		4
rs12373123	SPPL2C ; MAPT-AS1	0.882	0.160	17	45846707	missense variant	T/C	snv	0.15	0.14	4
rs12373142	SPPL2C ; MAPT-AS1	0.851	0.200	17	45846834	missense variant	C/G;T	snv	0.15		4
rs566672630	KANSL1	0.925	0.120	17	46171403	missense variant	T/A;C	snv			3
rs10445371	MAPT	0.925	0.120	17	45988044	intron variant	G/A	snv		0.15	3
rs17571739	MAPT	0.925	0.120	17	45955549	intron variant	T/C	snv		0.14	3
rs17571809	MAPT	0.925	0.120	17	45957493	intron variant	A/G	snv		0.14	3
rs17572169	MAPT	0.925	0.120	17	45968608	intron variant	C/T	snv		0.14	3
rs17572361	MAPT	0.925	0.120	17	45974643	non coding transcript exon variant	T/C	snv		0.14	3
rs17650901	MAPT	0.925	0.120	17	45962325	5 prime UTR variant	A/G	snv	0.14	0.14	3
rs17651213	MAPT	0.925	0.120	17	45974558	non coding transcript exon variant	G/A	snv		0.14	3
rs1800547	MAPT	0.925	0.120	17	45974480	non coding transcript exon variant	A/G	snv	0.15	0.14	3
rs17769490	MAPT-AS1	0.925	0.120	17	45848239	intron variant	G/A	snv		0.14	3
rs17769552	MAPT-AS1	0.925	0.120	17	45849924	intron variant	G/A	snv		0.14	3
rs12185235	MAPT-AS1 ; SPPL2C	0.925	0.120	17	45846337	synonymous variant	C/T	snv	0.14	0.14	3
rs11079725	SPPL2C ; MAPT-AS1	0.925	0.120	17	45846568	synonymous variant	T/C	snv	0.15	0.14	3
rs12373124	SPPL2C ; MAPT-AS1	0.790	0.120	17	45846853	synonymous variant	T/C	snv	0.15	0.14	3
rs17690679	SPPL2C ; MAPT-AS1	0.925	0.120	17	45847437	intron variant	A/G	snv		0.14	3
rs5919432		0.882	0.160	X	67801708	intergenic variant	C/T	snv			2
rs11576658	C1orf127	0.925	0.120	1	10977679	intron variant	C/T	snv		0.20	2