Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs148032587
rs148032587
PMM2
0.925 0.080 16 8811173 missense variant G/A snv 1.6E-04 1.3E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1997 2017
dbSNP: rs80338709
rs80338709
PMM2 ; LOC100130283
0.925 0.080 16 8847806 missense variant G/C snv 6.0E-05 2.7E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1997 2017