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: rs1057518907
rs1057518907
GNAS
0.732 0.320 20 58891811 stop gained C/G;T snv
CUI: C0239479
Disease: Round face
Round face 		0.700 0
dbSNP: rs879253753
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins
CUI: C0239479
Disease: Round face
Round face 		0.700 0
dbSNP: rs886041239
rs886041239
SMC3
1.000 0.160 10 110593202 missense variant A/G snv
CUI: C0239479
Disease: Round face
Round face 		0.700 0