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
rs1110061	NR5A1	0.807	0.200	9	124500523	missense variant	C/A;G	snv	4.3E-06; 0.10		7
rs370681	AXIN1	0.807	0.200	16	342461	intron variant	C/T	snv		0.48	6
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
rs6523	INSL3	0.882	0.200	19	17821329	missense variant	T/C	snv	0.65	0.70	4
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
rs1556425596	COL6A1	0.752	0.240	21	45989967	intron variant	C/T	snv			37
rs121918463	PTPN11	0.851	0.240	12	112477651	missense variant	T/A;C;G	snv			6
rs61729366	FRAS1	0.851	0.240	4	78511299	missense variant	G/A	snv	5.2E-03	5.8E-03	6
rs1135402740	SMCHD1	0.925	0.240	18	2674018	missense variant	T/G	snv			4
rs2069521		0.851	0.240	15	74746626	upstream gene variant	G/A	snv		4.9E-02	4
rs765057534	CYP19A1 ; MIR4713HG	0.851	0.240	15	51222402	missense variant	C/T	snv	4.0E-06		4
rs1003887	INSL3	0.882	0.240	19	17816591	3 prime UTR variant	C/T	snv		0.69	3
rs201247699	PTPN11	0.925	0.240	12	112486476	missense variant	G/C	snv	6.4E-05	2.1E-05	2
rs397517154	SOS1	0.763	0.280	2	39022773	missense variant	C/A;G;T	snv	4.0E-06		16
rs759317757	OTUD6B	0.807	0.280	8	91078416	frameshift variant	TTAAC/-	delins			12
rs1805105	AXIN1	0.776	0.280	16	346264	synonymous variant	A/G	snv	0.61	0.69	11
rs1114167291	ANKRD11	0.790	0.280	16	89281225	stop gained	C/A	snv			10
rs1057518944	NIPBL	0.807	0.280	5	36984990	frameshift variant	CT/-	delins			9
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
rs1554904772	BRSK2	0.882	0.280	11	1443490	missense variant	G/A	snv			4
rs1562134961	IRAK1BP1 ; PHIP	0.776	0.320	6	78969879	frameshift variant	A/-	delins			13