Source: ALL
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: rs387906702
rs387906702
0.807 0.200 X 53403635 missense variant A/G snv
CUI: C1737329
Disease: Dysmorphism
Dysmorphism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0