DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Bifid Nose With Or Without Anorectal And Renal Anomalies ×

Variants associated to the Gene: FREM1 ×

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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
rs121912609	FREM1	1.000	0.120	9	14824929	missense variant	G/A	snv			1
rs121912610	FREM1	1.000	0.120	9	14784494	missense variant	C/T	snv	2.4E-05	1.4E-05	1