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: rs28931615
rs28931615
0.732 0.240 4 1804426 missense variant C/A;T snv
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.870 1.000 12 1995 2019
dbSNP: rs121913116
rs121913116
0.763 0.360 4 1799395 missense variant C/T snv
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2006 2006
dbSNP: rs121913105
rs121913105
0.653 0.600 4 1806163 missense variant A/C;T snv
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs121913483
rs121913483
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs28931614
rs28931614
0.672 0.520 4 1804392 missense variant G/A;C snv
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs4647924
rs4647924
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0