DisGeNET - a database of gene-disease associations

List of associated variants

Cryptorchidism, C0010417

Source: INFERRED ×

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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
rs1060499548	ABL1	0.724	0.440	9	130872961	missense variant	G/A	snv			27
rs1114167291	ANKRD11	0.790	0.280	16	89281225	stop gained	C/A	snv			10
rs869312712	ARID1B	0.925	0.360	6	157084866	stop gained	C/T	snv			3
rs122445099	ATRX	0.827	0.400	X	77520832	stop gained	G/A	snv			6
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		32
rs1554904772	BRSK2	0.882	0.280	11	1443490	missense variant	G/A	snv			4
rs1556425596	COL6A1	0.752	0.240	21	45989967	intron variant	C/T	snv			37
rs1554846212	DUPD1 ; KAT6B	0.851	0.160	10	75030037	missense variant	C/T	snv			9
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs387906692	FAM20A ; PRKAR1A	0.752	0.480	17	68530405	stop gained	C/T	snv			8
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18
rs61729366	FRAS1	0.851	0.240	4	78511299	missense variant	G/A	snv	5.2E-03	5.8E-03	6
rs143044921	FREM2	0.827	0.280	13	38691375	missense variant	G/A;T	snv	3.5E-03		8
rs104894697	INSL3	1.000	0.120	19	17816972	missense variant	G/A;C	snv	3.5E-04; 4.0E-06		1
rs104894698	INSL3	1.000	0.120	19	17816946	missense variant	G/A	snv	4.0E-06	2.1E-05	1
rs121912555	INSL3	1.000	0.120	19	17816920	missense variant	G/A;C	snv	4.0E-06; 4.0E-06		1
rs121912556	INSL3	1.000	0.120	19	17816945	missense variant	C/T	snv	6.9E-04	2.7E-04	1
rs398122886	INSL3	1.000	0.120	19	17817033	stop gained	G/A	snv	1.6E-05	7.0E-06	1
rs1562134961	IRAK1BP1 ; PHIP	0.776	0.320	6	78969879	frameshift variant	A/-	delins			13
rs1057516033	KAT6B	0.807	0.400	10	75025250	splice donor variant	G/A	snv			9
rs1565573786	LOC105369759 ; DHH	0.807	0.160	12	49091165	stop gained	G/C;T	snv			6
rs1480612338	LOC105369759 ; DHH	0.851	0.160	12	49090416	missense variant	C/T	snv	4.3E-06		4
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		20
rs1565295267	MYRF ; TMEM258	0.827	0.360	11	61774051	missense variant	C/A	snv			6
rs1057518944	NIPBL	0.807	0.280	5	36984990	frameshift variant	CT/-	delins			9