DisGeNET - a database of gene-disease associations

List of associated variants

Penile hypospadias, C1691215

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs199469465	SRCAP	0.672	0.560	16	30737343	stop gained	C/A;T	snv			50
rs180177135	PALB2	0.716	0.520	16	23607891	frameshift variant	T/-	del		2.1E-05	27
rs1569509136	HUWE1	0.708	0.400	X	53647576	splice acceptor variant	T/C	snv			24
rs523349	SRD5A2	0.689	0.440	2	31580636	missense variant	G/A;C;T	snv	0.66; 4.9E-06		21
rs1064795104	EXOC6B	0.790	0.440	2	72498492	stop gained	A/C	snv			17
rs121909574	TFAP2A-AS2 ; TFAP2A	0.724	0.400	6	10404509	missense variant	T/A;C;G	snv	4.6E-06		17
rs1271572	ESR2	0.708	0.400	14	64295199	intron variant	A/C;T	snv			16
rs9282858	SRD5A2	0.716	0.320	2	31580756	missense variant	C/T	snv	1.8E-02	2.1E-02	16
rs1057516030	LOC105372797 ; DYRK1A	0.807	0.280	21	37480785	stop gained	-/A	delins			14
rs1569309484	RLIM	0.807	0.200	X	74591586	missense variant	A/G	snv			13
rs121907900	WT1	0.763	0.200	11	32392020	missense variant	G/A	snv			11
rs137852569	AR	0.752	0.320	X	67686030	missense variant	G/A	snv		9.4E-06	10
rs9332964	SRD5A2	0.763	0.240	2	31529325	missense variant	C/T	snv	4.7E-04	1.6E-04	10
rs1057518944	NIPBL	0.807	0.280	5	36984990	frameshift variant	CT/-	delins			9
rs1555706928	SETBP1	0.851	0.240	18	44951954	missense variant	G/A	snv			8
rs2066479	HSD17B3	0.790	0.160	9	96235528	missense variant	C/A;G;T	snv	7.2E-02		7
rs1110061	NR5A1	0.807	0.200	9	124500523	missense variant	C/A;G	snv	4.3E-06; 0.10		7
rs121434250	SRD5A2	0.790	0.200	2	31529419	missense variant	C/G;T	snv	1.4E-04	1.5E-04	7
rs9332967	SRD5A2	0.790	0.200	2	31526224	missense variant	C/T	snv	2.3E-04	1.1E-04	7
rs200750564	HOXD13	0.827	0.160	2	176094518	stop gained	C/T	snv	8.0E-06	7.0E-06	6
rs1565286228	MYRF	0.807	0.200	11	61766173	frameshift variant	GCACCGGGCCCCCCATC/T	delins			6
rs132630297	PHF6	0.925	0.280	X	134425256	stop gained	C/A;T	snv			6
rs1877031	STARD3	0.827	0.280	17	39657827	missense variant	G/A	snv	0.62	0.52	6