DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Dysmorphic features ×

Variants associated to the Gene: PMM2 ×

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
rs80338709	LOC100130283 ; PMM2	0.925	0.080	16	8847806	missense variant	G/C	snv	6.0E-05	2.7E-04	2
rs148032587	PMM2	0.925	0.080	16	8811173	missense variant	G/A	snv	1.6E-04	1.3E-04	2