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: rs67162110
rs67162110
1.000 0.160 7 94412122 splice donor variant G/A;C snv 1.2E-05
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs72656354
rs72656354
1.000 0.160 7 94395818 intron variant A/G snv
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs72659343
rs72659343
1.000 0.160 7 94428367 stop gained G/A;T snv 2.0E-05
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs797044459
rs797044459
1.000 0.160 7 94404567 frameshift variant -/C delins
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0