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: rs1555891562
rs1555891562
GNAS
1.000 20 58909707 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 1993 2017
dbSNP: rs1555891562
rs1555891562
GNAS
1.000 20 58909707 missense variant G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 10 1993 2017
dbSNP: rs1555891562
rs1555891562
GNAS
1.000 20 58909707 missense variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 1993 2017