DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: SPERMATOGENIC FAILURE 10 ×

Variants associated to the Gene: SEPTIN12 ×

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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
rs199696526	SEPTIN12	0.882	0.040	16	4786006	missense variant	G/A	snv	1.2E-04	5.6E-05	1
rs371195126	SEPTIN12	0.882	0.040	16	4783690	missense variant	C/G;T	snv	2.4E-05		1