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: rs104894647
rs104894647
0.925 0.080 17 72122804 missense variant A/G snv
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
Acampomelic Campomelic Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs137853128
rs137853128
0.925 0.080 17 72121618 missense variant C/A snv
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
Acampomelic Campomelic Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs28940282
rs28940282
0.925 0.080 17 72122780 missense variant C/T snv
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
Acampomelic Campomelic Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0