DisGeNET - a database of gene-disease associations

List of associated variants

46, XY Disorders of Sex Development, C2751824

Source: ALL

Results per page

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
rs121907900	WT1	0.763	0.200	11	32392020	missense variant	G/A	snv			11
rs104894119	NR5A1	0.807	0.160	9	124500685	missense variant	C/T	snv			7
rs121918654	NR5A1	0.882	0.200	9	124503218	missense variant	GC/TT	mnv			6
rs747724352	HSD17B3	0.925	0.240	9	96251474	missense variant	C/T	snv	2.0E-05		3
rs267599353	SRD5A2	0.925	0.200	2	31533741	stop gained	G/A;T	snv	2.2E-05; 9.5E-05		3
rs773720185	HSD17B3-AS1 ; HSD17B3	1.000	0.160	9	96245373	missense variant	G/A;T	snv	4.0E-06		2
rs1213451480	NR5A1	1.000	0.120	9	124500652	missense variant	C/T	snv			2
rs121434244	SRD5A2	1.000	0.200	2	31526225	missense variant	G/A	snv		2.8E-05	2
rs1443135220	EPHA3			3	89210100	missense variant	G/A	snv	4.0E-06		1
rs1217623435	ESR2			14	64235099	missense variant	A/C	snv	4.0E-06		1