DisGeNET - a database of gene-disease associations

List of associated variants

Cryptorchidism, C0010417

Source: ALL

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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
rs4758680	LRRC43	0.763	0.320	12	122170805	intron variant	T/A;G	snv			9
rs121918458	PTPN11	0.807	0.320	12	112489080	missense variant	T/A;G	snv			8
rs141498002	PMM2	0.827	0.280	16	8811099	stop gained	G/A;T	snv	1.1E-04; 5.2E-06		8
rs143044921	FREM2	0.827	0.280	13	38691375	missense variant	G/A;T	snv	3.5E-03		8
rs1557569831	SZT2	0.925	0.120	1	43431458	splice acceptor variant	A/G	snv			8
rs1110061	NR5A1	0.807	0.200	9	124500523	missense variant	C/A;G	snv	4.3E-06; 0.10		7
rs121918463	PTPN11	0.851	0.240	12	112477651	missense variant	T/A;C;G	snv			6
rs122445099	ATRX	0.827	0.400	X	77520832	stop gained	G/A	snv			6
rs1565295267	MYRF ; TMEM258	0.827	0.360	11	61774051	missense variant	C/A	snv			6
rs1565573786	LOC105369759 ; DHH	0.807	0.160	12	49091165	stop gained	G/C;T	snv			6
rs2055979	IL21-AS1 ; IL21	0.827	0.320	4	122619586	intron variant	C/A	snv		0.23	6
rs2274911	GPRC6A	0.851	0.160	6	116809541	missense variant	G/A	snv	0.72	0.74	6
rs370681	AXIN1	0.807	0.200	16	342461	intron variant	C/T	snv		0.48	6
rs61729366	FRAS1	0.851	0.240	4	78511299	missense variant	G/A	snv	5.2E-03	5.8E-03	6
rs1568303086	TCF4	0.882	0.320	18	55228877	missense variant	C/A	snv			5
rs554416372	WT1	0.827	0.160	11	32396397	missense variant	C/A;G;T	snv	2.0E-05; 8.0E-06; 9.6E-05		5
rs1135402740	SMCHD1	0.925	0.240	18	2674018	missense variant	T/G	snv			4
rs1480612338	LOC105369759 ; DHH	0.851	0.160	12	49090416	missense variant	C/T	snv	4.3E-06		4
rs1554904772	BRSK2	0.882	0.280	11	1443490	missense variant	G/A	snv			4
rs2069521		0.851	0.240	15	74746626	upstream gene variant	G/A	snv		4.9E-02	4
rs4919686	WBP1L ; CYP17A1 ; CYP17A1-AS1	0.851	0.200	10	102832492	3 prime UTR variant	A/C	snv	0.23	0.21	4
rs6523	INSL3	0.882	0.200	19	17821329	missense variant	T/C	snv	0.65	0.70	4
rs765057534	CYP19A1 ; MIR4713HG	0.851	0.240	15	51222402	missense variant	C/T	snv	4.0E-06		4
rs797045005	TUBA1A	0.851	0.320	12	49185140	missense variant	A/G	snv			4
rs1003887	INSL3	0.882	0.240	19	17816591	3 prime UTR variant	C/T	snv		0.69	3