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
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			39
rs1060499548	ABL1	0.724	0.440	9	130872961	missense variant	G/A	snv			27
rs1057519925	PIK3CA	0.683	0.560	3	179210291	missense variant	G/A;C	snv			25
rs17855750	IL27	0.695	0.480	16	28503907	missense variant	A/C;T	snv	6.4E-02; 4.0E-06		21
rs397507545	PTPN11	0.708	0.560	12	112489083	missense variant	G/A;C	snv	4.0E-06		20
rs397517154	SOS1	0.763	0.280	2	39022773	missense variant	C/A;G;T	snv	4.0E-06		16
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
rs1554199368	NSD1	0.827	0.160	5	177256956	missense variant	C/T	snv			12
rs1554846212	DUPD1 ; KAT6B	0.851	0.160	10	75030037	missense variant	C/T	snv			9
rs121918458	PTPN11	0.807	0.320	12	112489080	missense variant	T/A;G	snv			8
rs143044921	FREM2	0.827	0.280	13	38691375	missense variant	G/A;T	snv	3.5E-03		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
rs1565295267	MYRF ; TMEM258	0.827	0.360	11	61774051	missense variant	C/A	snv			6
rs2274911	GPRC6A	0.851	0.160	6	116809541	missense variant	G/A	snv	0.72	0.74	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
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