DisGeNET - a database of gene-disease associations

List of associated variants

Cryptorchidism, C0010417

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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
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	46
rs1556425596	COL6A1	0.752	0.240	21	45989967	intron variant	C/T	snv			37
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		34
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			34
rs875989800	SMARCB1	0.732	0.480	22	23833670	inframe deletion	AGA/-	delins			33
rs1060499548	ABL1	0.724	0.440	9	130872961	missense variant	G/A	snv			27
rs180177135	PALB2	0.716	0.520	16	23607891	frameshift variant	T/-	del		2.1E-05	27
rs1057519925	PIK3CA	0.683	0.560	3	179210291	missense variant	G/A;C	snv			24
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		20
rs587784105	NSD1	0.732	0.440	5	177235863	stop gained	G/A	snv			19
rs765379963	TMCO1	0.701	0.520	1	165743172	stop gained	G/A	snv	1.2E-05	2.1E-05	19
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18
rs397507545	PTPN11	0.708	0.560	12	112489083	missense variant	G/A;C	snv	4.0E-06		16
rs397517154	SOS1	0.763	0.280	2	39022773	missense variant	C/A;G;T	snv	4.0E-06		16
rs1562134961	IRAK1BP1 ; PHIP	0.776	0.320	6	78969879	frameshift variant	A/-	delins			13
rs200426926	THOC6 ; BICDL2	0.776	0.400	16	3027379	missense variant	G/A;T	snv	1.8E-04; 4.0E-06		13
rs138632121	THOC6 ; HCFC1R1	0.776	0.400	16	3026140	missense variant	T/A	snv	1.7E-04	2.0E-04	13
rs1554199368	NSD1	0.827	0.160	5	177256956	missense variant	C/T	snv			12
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
rs1554846212	DUPD1 ; KAT6B	0.851	0.160	10	75030037	missense variant	C/T	snv			9
rs1057516033	KAT6B	0.807	0.400	10	75025250	splice donor variant	G/A	snv			9
rs1057518944	NIPBL	0.807	0.280	5	36984990	frameshift variant	CT/-	delins			9
rs387906692	FAM20A ; PRKAR1A	0.752	0.480	17	68530405	stop gained	C/T	snv			8