Disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE ×
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: rs137853146
rs137853146 		1.000 0.160 5 179272926 stop gained G/A snv 1.5E-04 5.6E-05
CUI: C2700425
Disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 6 1992 2008
dbSNP: rs137853147
rs137853147 		1.000 0.160 5 179130005 stop gained C/T snv
CUI: C2700425
Disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 2 1999 2004
dbSNP: rs1057517277
rs1057517277 		1.000 0.160 5 179128118 splice acceptor variant CTGTGCC/- delins
CUI: C2700425
Disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1554123627
rs1554123627 		1.000 0.160 5 179122662 frameshift variant T/- del
CUI: C2700425
Disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1554125059
rs1554125059 		1.000 0.160 5 179140026 frameshift variant -/A delins
CUI: C2700425
Disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs966437723
rs966437723 		1.000 0.160 5 179122644 stop gained G/A;C snv 6.6E-06
CUI: C2700425
Disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0