Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555103652
rs1555103652
0.882 0.240 12 13569973 missense variant A/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs886041095
rs886041095
0.827 0.160 12 13571930 missense variant C/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0