DYM, dymeclin, 54808

N. diseases: 155; N. variants: 31
Source: ALL
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: rs120074165
rs120074165
1.000 0.080 18 49118866 missense variant A/G snv
CUI: C3888088
Disease: SMITH-MCCORT DYSPLASIA 1
SMITH-MCCORT DYSPLASIA 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 3 2003 2009
dbSNP: rs120074164
rs120074164
1.000 0.080 18 49379693 missense variant C/T snv 4.0E-06
CUI: C3888088
Disease: SMITH-MCCORT DYSPLASIA 1
SMITH-MCCORT DYSPLASIA 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 3 2003 2009
dbSNP: rs775414124
rs775414124
0.925 0.280 18 49332008 splice acceptor variant T/C snv 1.6E-05 1.4E-05
CUI: C3888088
Disease: SMITH-MCCORT DYSPLASIA 1
SMITH-MCCORT DYSPLASIA 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0