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: rs104886003
rs104886003
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 2 2012 2016