DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Pseudovaginal Perineoscrotal Hypospadias ×

Variants associated to the Gene: SRD5A2 ×

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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
rs1553329427	SRD5A2	0.851	0.200	2	31580683	frameshift variant	A/-	del			4
rs121434250	SRD5A2	0.790	0.200	2	31529419	missense variant	C/G;T	snv	1.4E-04	1.5E-04	2
rs9332964	SRD5A2	0.763	0.240	2	31529325	missense variant	C/T	snv	4.7E-04	1.6E-04	2
rs1057517829	SRD5A2	1.000	0.200	2	31531376	missense variant	G/A	snv		7.0E-06	1
rs1060499834	SRD5A2	1.000	0.200	2	31580690	stop gained	G/A	snv	8.6E-06		1
rs1200261940	SRD5A2	1.000	0.200	2	31531384	stop gained	G/A;T	snv			1
rs121434244	SRD5A2	1.000	0.200	2	31526225	missense variant	G/A	snv		2.8E-05	1
rs121434245	SRD5A2	0.882	0.200	2	31580737	missense variant	A/T	snv			1
rs121434246	SRD5A2	0.925	0.200	2	31533704	missense variant	C/T	snv	2.3E-05	2.1E-05	1
rs121434247	SRD5A2	1.000	0.200	2	31531371	missense variant	C/T	snv	3.1E-05	1.5E-04	1
rs121434248	SRD5A2	1.000	0.200	2	31529326	stop gained	G/A	snv	1.6E-05	3.5E-05	1
rs121434249	SRD5A2	0.851	0.280	2	31529323	missense variant	C/G;T	snv	4.0E-06		1
rs121434251	SRD5A2	1.000	0.200	2	31529313	missense variant	T/C	snv	1.5E-04	1.6E-04	1
rs121434252	SRD5A2	1.000	0.200	2	31529370	missense variant	G/C	snv	5.6E-05		1
rs121434253	SRD5A2	1.000	0.200	2	31529414	missense variant	C/A	snv	1.2E-05		1
rs1331249320	SRD5A2	1.000	0.200	2	31533681	missense variant	C/T	snv			1
rs1340425455	SRD5A2	1.000	0.200	2	31533768	splice acceptor variant	T/A;C	snv			1
rs1351269392	SRD5A2	1.000	0.200	2	31580647	missense variant	C/T	snv	4.7E-06	7.0E-06	1
rs145712014	SRD5A2	1.000	0.200	2	31526227	missense variant	G/T	snv	2.0E-04	6.4E-04	1
rs1553323033	SRD5A2	1.000	0.200	2	31526232	frameshift variant	G/-	delins			1
rs1553323036	SRD5A2	1.000	0.200	2	31526236	missense variant	T/C	snv			1
rs1553323488	SRD5A2	1.000	0.200	2	31529322	missense variant	G/A	snv			1
rs1553329443	SRD5A2	1.000	0.200	2	31580696	missense variant	C/A	snv			1
rs201175894	SRD5A2	1.000	0.200	2	31580630	missense variant	A/C;G	snv	8.1E-05; 1.0E-05		1
rs267599353	SRD5A2	0.925	0.200	2	31533741	stop gained	G/A;T	snv	2.2E-05; 9.5E-05		1