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
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18
rs1562134961	IRAK1BP1 ; PHIP	0.776	0.320	6	78969879	frameshift variant	A/-	delins			13
rs1553329427	SRD5A2	0.851	0.200	2	31580683	frameshift variant	A/-	del			4
rs4919686	WBP1L ; CYP17A1 ; CYP17A1-AS1	0.851	0.200	10	102832492	3 prime UTR variant	A/C	snv	0.23	0.21	4
rs570837260	INSL3	1.000	0.120	19	17821391	missense variant	A/C	snv	7.3E-04	5.5E-04	1
rs121918303	RXFP2	1.000	0.120	13	31777398	missense variant	A/C;G	snv	4.6E-03; 4.0E-06		1
rs17855750	IL27	0.695	0.480	16	28503907	missense variant	A/C;T	snv	6.4E-02; 4.0E-06		21
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	47
rs1805105	AXIN1	0.776	0.280	16	346264	synonymous variant	A/G	snv	0.61	0.69	11
rs1557569831	SZT2	0.925	0.120	1	43431458	splice acceptor variant	A/G	snv			8
rs797045005	TUBA1A	0.851	0.320	12	49185140	missense variant	A/G	snv			4
rs875989800	SMARCB1	0.732	0.480	22	23833670	inframe deletion	AGA/-	delins			33
rs1114167291	ANKRD11	0.790	0.280	16	89281225	stop gained	C/A	snv			10
rs1565295267	MYRF ; TMEM258	0.827	0.360	11	61774051	missense variant	C/A	snv			6
rs2055979	IL21-AS1 ; IL21	0.827	0.320	4	122619586	intron variant	C/A	snv		0.23	6
rs1568303086	TCF4	0.882	0.320	18	55228877	missense variant	C/A	snv			5
rs1110061	NR5A1	0.807	0.200	9	124500523	missense variant	C/A;G	snv	4.3E-06; 0.10		7
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs397517154	SOS1	0.763	0.280	2	39022773	missense variant	C/A;G;T	snv	4.0E-06		16
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
rs776428407	HOXA10 ; HOXA10-HOXA9 ; HOXA9	1.000	0.120	7	27174194	missense variant	C/A;T	snv	4.3E-06; 4.3E-06		1
rs7977932	LRRC43 ; IL31	0.763	0.320	12	122172836	intron variant	C/G;T	snv			10
rs1556425596	COL6A1	0.752	0.240	21	45989967	intron variant	C/T	snv			37
rs1554199368	NSD1	0.827	0.160	5	177256956	missense variant	C/T	snv			12