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: rs121909352
rs121909352
0.882 0.120 8 96145185 missense variant G/T snv 2.0E-03 2.0E-03
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 2008 2009
dbSNP: rs121909354
rs121909354
1.000 0.080 8 96160568 missense variant C/A;G snv 2.3E-04; 2.8E-05
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 2008 2009
dbSNP: rs63751220
rs63751220
0.882 0.120 8 96145065 missense variant A/G snv 6.4E-05 8.8E-04
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2008 2008
dbSNP: rs121909353
rs121909353
1.000 0.080 8 96144660 missense variant T/C snv 2.1E-04 2.8E-05
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2008 2009