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: rs121913017
rs121913017
1.000 0.160 19 45352223 stop gained G/A;C snv 4.0E-06
Cerebrooculofacioskeletal Syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121913019
rs121913019
0.925 0.240 19 45354774 missense variant T/C;G snv 4.0E-06
Cerebrooculofacioskeletal Syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121913025
rs121913025
0.925 0.240 19 45357295 missense variant A/G snv
Cerebrooculofacioskeletal Syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121913023
rs121913023
0.851 0.400 19 45352511 missense variant C/T snv 2.0E-05 1.4E-05
Cerebrooculofacioskeletal Syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs121913024
rs121913024
0.851 0.400 19 45352802 missense variant G/A snv 5.6E-05 3.5E-05
Cerebrooculofacioskeletal Syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2001 2001