DisGeNET - a database of gene-disease associations

List of associated variants

Sex Differentiation Disorders, C2930619

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
rs886039769	NR5A1	0.807	0.160	9	124500686	missense variant	G/A	snv			10
rs9332964	SRD5A2	0.763	0.240	2	31529325	missense variant	C/T	snv	4.7E-04	1.6E-04	10
rs121913494	GNAS	0.827	0.240	20	58909541	missense variant	A/G;T	snv			7
rs200755477	EFCAB6-AS1 ; EFCAB6	0.925	0.120	22	43528870	missense variant	G/A	snv	1.2E-04	1.0E-04	3
rs1173716957	HHAT	1.000	0.120	1	210464508	missense variant	G/T	snv		1.4E-05	3
rs2073043	MAMLD1			X	150473747	missense variant	A/G	snv	0.11	0.10	1
rs41313406	MAMLD1			X	150470648	missense variant	C/T	snv	8.3E-02	8.3E-02	1
rs62641609	MAMLD1			X	150470614	missense variant	C/A	snv	5.4E-03	1.9E-02	1
rs748162844	NR0B1			X	30308585	missense variant	G/A;T	snv			1
rs1478477850	NR5A1			9	124500181	missense variant	G/A;T	snv	4.1E-06; 4.1E-06		1