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: rs121917856
rs121917856
1.000 0.120 2 219060331 missense variant G/A snv
CUI: C1843096
Disease: Acrocapitofemoral Dysplasia
Acrocapitofemoral Dysplasia
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2003 2003
dbSNP: rs121917857
rs121917857
1.000 0.120 2 219057441 missense variant A/G snv
CUI: C1843096
Disease: Acrocapitofemoral Dysplasia
Acrocapitofemoral Dysplasia
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2003 2003