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
rs2472680	NR1I2	0.882	0.160	3	119808929	intron variant	T/C	snv		0.90	3
rs10407022	AMH ; MIR4321	0.882	0.200	19	2249478	missense variant	G/T	snv	0.77	0.74	3
rs2274911	GPRC6A	0.851	0.160	6	116809541	missense variant	G/A	snv	0.72	0.74	6
rs6523	INSL3	0.882	0.200	19	17821329	missense variant	T/C	snv	0.65	0.70	4
rs1805105	AXIN1	0.776	0.280	16	346264	synonymous variant	A/G	snv	0.61	0.69	11
rs1003887	INSL3	0.882	0.240	19	17816591	3 prime UTR variant	C/T	snv		0.69	3
rs370681	AXIN1	0.807	0.200	16	342461	intron variant	C/T	snv		0.48	6
rs153109	IL27	0.623	0.600	16	28507775	intron variant	T/C	snv		0.43	37
rs1047233	INSL3	0.925	0.200	19	17821381	synonymous variant	T/A;C;G	snv	0.30	0.37	2
rs907715	IL21	0.752	0.520	4	122613898	intron variant	C/T	snv		0.35	11
rs5000770	ARNT2	0.882	0.160	15	80424141	intron variant	G/A	snv		0.27	3
rs12508721	IL21-AS1	0.742	0.360	4	122623509	intron variant	C/T	snv		0.24	11
rs2055979	IL21-AS1 ; IL21	0.827	0.320	4	122619586	intron variant	C/A	snv		0.23	6
rs6932902	ESR1	0.882	0.160	6	152055389	intron variant	G/A	snv		0.22	3
rs4919686	WBP1L ; CYP17A1 ; CYP17A1-AS1	0.851	0.200	10	102832492	3 prime UTR variant	A/C	snv	0.23	0.21	4
rs2286663	INSL3	0.925	0.200	19	17821480	synonymous variant	C/T	snv	0.10	7.3E-02	2
rs2069521		0.851	0.240	15	74746626	upstream gene variant	G/A	snv		4.9E-02	4
rs2278705		0.882	0.160	15	80402288	intron variant	C/T	snv		4.2E-02	3
rs61729366	FRAS1	0.851	0.240	4	78511299	missense variant	G/A	snv	5.2E-03	5.8E-03	6
rs570837260	INSL3	1.000	0.120	19	17821391	missense variant	A/C	snv	7.3E-04	5.5E-04	1
rs121912556	INSL3	1.000	0.120	19	17816945	missense variant	C/T	snv	6.9E-04	2.7E-04	1
rs138632121	THOC6 ; HCFC1R1	0.776	0.400	16	3026140	missense variant	T/A	snv	1.7E-04	2.0E-04	13
rs1386170575	GPR42	1.000	0.120	19	35371534	missense variant	G/A	snv	3.7E-05	8.5E-05	1
rs765379963	TMCO1	0.701	0.520	1	165743172	stop gained	G/A	snv	1.2E-05	2.1E-05	19
rs180177135	PALB2	0.716	0.520	16	23607891	frameshift variant	T/-	del		2.1E-05	27