DisGeNET - a database of gene-disease associations

List of associated variants

Cryptorchidism, C0010417

Source: INFERRED ×

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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
rs1557569831	SZT2	0.925	0.120	1	43431458	splice acceptor variant	A/G	snv			8
rs746200792	SZT2	0.925	0.120	1	43437254	inframe deletion	TGT/-	delins			8
rs104894697	INSL3	1.000	0.120	19	17816972	missense variant	G/A;C	snv	3.5E-04; 4.0E-06		1
rs104894698	INSL3	1.000	0.120	19	17816946	missense variant	G/A	snv	4.0E-06	2.1E-05	1
rs121912555	INSL3	1.000	0.120	19	17816920	missense variant	G/A;C	snv	4.0E-06; 4.0E-06		1
rs121912556	INSL3	1.000	0.120	19	17816945	missense variant	C/T	snv	6.9E-04	2.7E-04	1
rs398122886	INSL3	1.000	0.120	19	17817033	stop gained	G/A	snv	1.6E-05	7.0E-06	1
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
rs1565573786	LOC105369759 ; DHH	0.807	0.160	12	49091165	stop gained	G/C;T	snv			6
rs1480612338	LOC105369759 ; DHH	0.851	0.160	12	49090416	missense variant	C/T	snv	4.3E-06		4
rs1553329427	SRD5A2	0.851	0.200	2	31580683	frameshift variant	A/-	del			4
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
rs397517154	SOS1	0.763	0.280	2	39022773	missense variant	C/A;G;T	snv	4.0E-06		15
rs759317757	OTUD6B	0.807	0.280	8	91078416	frameshift variant	TTAAC/-	delins			12
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
rs121918458	PTPN11	0.807	0.320	12	112489080	missense variant	T/A;G	snv			8