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
rs759317757	OTUD6B	0.807	0.280	8	91078416	frameshift variant	TTAAC/-	delins			12
rs746200792	SZT2	0.925	0.120	1	43437254	inframe deletion	TGT/-	delins			8
rs1135402740	SMCHD1	0.925	0.240	18	2674018	missense variant	T/G	snv			4
rs3757824	LOC101927609 ; AHR	0.882	0.160	7	17296411	non coding transcript exon variant	T/C;G	snv			3
rs153109	IL27	0.623	0.600	16	28507775	intron variant	T/C	snv		0.43	37
rs6523	INSL3	0.882	0.200	19	17821329	missense variant	T/C	snv	0.65	0.70	4
rs2472680	NR1I2	0.882	0.160	3	119808929	intron variant	T/C	snv		0.90	3
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
rs121918463	PTPN11	0.851	0.240	12	112477651	missense variant	T/A;C;G	snv			6
rs1047233	INSL3	0.925	0.200	19	17821381	synonymous variant	T/A;C;G	snv	0.30	0.37	2
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		72
rs138632121	THOC6 ; HCFC1R1	0.776	0.400	16	3026140	missense variant	T/A	snv	1.7E-04	2.0E-04	13
rs180177135	PALB2	0.716	0.520	16	23607891	frameshift variant	T/-	del		2.1E-05	27
rs10407022	AMH ; MIR4321	0.882	0.200	19	2249478	missense variant	G/T	snv	0.77	0.74	3
rs1364038551	AR	1.000	0.120	X	67546090	missense variant	G/T	snv		9.4E-06	1
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			39
rs1565573786	LOC105369759 ; DHH	0.807	0.160	12	49091165	stop gained	G/C;T	snv			6
rs1020397	ARNT2	0.882	0.160	15	80426396	intron variant	G/C;T	snv			3
rs201247699	PTPN11	0.925	0.240	12	112486476	missense variant	G/C	snv	6.4E-05	2.1E-05	2
rs200426926	THOC6 ; BICDL2	0.776	0.400	16	3027379	missense variant	G/A;T	snv	1.8E-04; 4.0E-06		13
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
rs1057519925	PIK3CA	0.683	0.560	3	179210291	missense variant	G/A;C	snv			25
rs397507545	PTPN11	0.708	0.560	12	112489083	missense variant	G/A;C	snv	4.0E-06		20