DisGeNET - a database of gene-disease associations

List of associated variants

Cryptorchidism, C0010417

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
rs122445099	ATRX	0.827	0.400	X	77520832	stop gained	G/A	snv			6
rs1364038551	AR	1.000	0.120	X	67546090	missense variant	G/T	snv		9.4E-06	1
rs875989800	SMARCB1	0.732	0.480	22	23833670	inframe deletion	AGA/-	delins			33
rs1556425596	COL6A1	0.752	0.240	21	45989967	intron variant	C/T	snv			37
rs6523	INSL3	0.882	0.200	19	17821329	missense variant	T/C	snv	0.65	0.70	4
rs1003887	INSL3	0.882	0.240	19	17816591	3 prime UTR variant	C/T	snv		0.69	3
rs10407022	AMH ; MIR4321	0.882	0.200	19	2249478	missense variant	G/T	snv	0.77	0.74	3
rs1047233	INSL3	0.925	0.200	19	17821381	synonymous variant	T/A;C;G	snv	0.30	0.37	2
rs2286663	INSL3	0.925	0.200	19	17821480	synonymous variant	C/T	snv	0.10	7.3E-02	2
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
rs1386170575	GPR42	1.000	0.120	19	35371534	missense variant	G/A	snv	3.7E-05	8.5E-05	1
rs398122886	INSL3	1.000	0.120	19	17817033	stop gained	G/A	snv	1.6E-05	7.0E-06	1
rs570837260	INSL3	1.000	0.120	19	17821391	missense variant	A/C	snv	7.3E-04	5.5E-04	1
rs1568303086	TCF4	0.882	0.320	18	55228877	missense variant	C/A	snv			5
rs1135402740	SMCHD1	0.925	0.240	18	2674018	missense variant	T/G	snv			4
rs387906692	FAM20A ; PRKAR1A	0.752	0.480	17	68530405	stop gained	C/T	snv			11
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		72
rs153109	IL27	0.623	0.600	16	28507775	intron variant	T/C	snv		0.43	37
rs180177135	PALB2	0.716	0.520	16	23607891	frameshift variant	T/-	del		2.1E-05	27
rs17855750	IL27	0.695	0.480	16	28503907	missense variant	A/C;T	snv	6.4E-02; 4.0E-06		21
rs138632121	THOC6 ; HCFC1R1	0.776	0.400	16	3026140	missense variant	T/A	snv	1.7E-04	2.0E-04	13
rs200426926	THOC6 ; BICDL2	0.776	0.400	16	3027379	missense variant	G/A;T	snv	1.8E-04; 4.0E-06		13