DisGeNET - a database of gene-disease associations

List of associated variants

Hypertrichosis, C0020555

Source: CURATED ×

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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
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv			73
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs1555038111	KMT2A	0.701	0.480	11	118478153	stop gained	T/G	snv			37
rs875989800	SMARCB1	0.732	0.480	22	23833670	inframe deletion	AGA/-	delins			33
rs373145711	ASXL1	0.732	0.520	20	32433408	stop gained	C/T	snv	2.0E-05	2.8E-05	25
rs398124401	SRD5A3	0.695	0.480	4	55346393	stop gained	G/A	snv	1.2E-04	2.8E-05	25
rs1566785444	IRF2BPL	0.827	0.200	14	77025671	frameshift variant	C/-	delins			20
rs879255280	SMO	0.701	0.200	7	129206557	missense variant	C/T	snv			15
rs876657380	ARID1B	0.851	0.360	6	157181155	frameshift variant	AA/-	delins			11
rs753520553	NAGLU	0.851	0.280	17	42537433	missense variant	A/G	snv	3.2E-05	2.1E-05	10
rs1325394060	HUWE1	0.851	0.320	X	53534144	missense variant	C/G;T	snv		9.5E-06	9
rs483352897	NAGLU	0.882	0.280	17	42537517	frameshift variant	CGGCCAGGAG/-	delins	1.2E-05	2.8E-05	9
rs1085307138	PUF60 ; SCRIB	0.807	0.160	8	143817591	splice donor variant	C/T	snv			9
rs1554643168	PUF60	0.851	0.160	8	143818077	splice acceptor variant	T/C;G	snv			7
rs1057518918	ARID1B	0.882	0.160	6	157184329	frameshift variant	C/-	delins			6
rs387907208	ABCC9	0.851	0.200	12	21842327	missense variant	G/A;C	snv			5
rs1057518951	ARID1B	0.827	0.160	6	156829296	stop gained	C/T	snv			5
rs1085307137	PUF60	0.851	0.160	8	143818408	missense variant	C/T	snv		7.0E-06	5
rs1085307139	SCRIB ; PUF60	0.925	0.040	8	143817380	frameshift variant	-/C	delins			5
rs1057518775	KCNJ11	0.851	0.160	11	17387907	missense variant	G/A;C	snv			4
rs1085307134	SCRIB ; PUF60	0.925	0.040	8	143816728	missense variant	C/T	snv			2
rs63749090	CYP21A2	0.851	0.280	6	32038468	missense variant	G/A	snv		2.1E-05	1
rs9378251	CYP21A2	0.776	0.320	6	32038514	missense variant	C/T	snv	9.2E-05	5.4E-04	1
rs776989258	CYP21A2 ; TNXB	0.807	0.280	6	32041093	missense variant	C/G;T	snv	5.5E-04		1