DisGeNET - a database of gene-disease associations

List of associated variants

Hirsutism, C0019572

Source: ALL

Results per page

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
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		64
rs1555038111	KMT2A	0.701	0.480	11	118478153	stop gained	T/G	snv			37
rs1553770577	NPHP3-ACAD11 ; UBA5	0.724	0.480	3	132675342	missense variant	T/C	snv			37
rs370717845	HGSNAT	0.763	0.320	8	43161462	missense variant	G/A	snv			33
rs759125480	CEP120	0.827	0.160	5	123377409	stop gained	G/A	snv	1.6E-05		16
rs387906702	SMC1A	0.807	0.200	X	53403635	missense variant	A/G	snv			16
rs875989803	DDX3X	0.827	0.200	X	41343249	stop gained	G/T	snv			15
rs794727774	FUCA1	0.827	0.240	1	23848684	stop gained	C/T	snv			11
rs1057516044	ABCC9	0.851	0.240	12	21913005	missense variant	A/G	snv			9
rs753242774	MIR1226 ; DHX30	0.882	0.120	3	47848237	missense variant	C/A;T	snv			9
rs727503773	SMC1A	0.882	0.160	X	53412950	inframe deletion	TCT/-	delins			7
rs1057516034	NIPBL	0.925	0.120	5	37052453	stop gained	C/T	snv			5
rs730882202	CACNA1G	0.925	0.160	17	50571953	inframe deletion	TTC/-	delins			4
rs7226979	BCL2	0.925	0.120	18	63257737	intron variant	C/T	snv		0.42	3
rs984225	TBX15			1	118961661	intron variant	G/A;C	snv			2
rs6542772	LIMS1			2	108558159	intron variant	C/T	snv		0.45	1
rs1345417	SOX2-OT			3	181794163	intron variant	C/G	snv		0.62	1