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: rs121912773
rs121912773
0.925 0.080 10 104053072 missense variant C/T snv
Adult junctional epidermolysis bullosa (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 5 1996 2002
dbSNP: rs121912771
rs121912771
0.882 0.080 10 104034193 missense variant C/T snv 1.1E-04 1.5E-04
Adult junctional epidermolysis bullosa (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 5 1996 2002
dbSNP: rs1478395810
rs1478395810
1.000 0.080 10 104046775 splice acceptor variant T/C snv
Adult junctional epidermolysis bullosa (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 3 1997 2009
dbSNP: rs775244527
rs775244527
1.000 0.080 10 104036490 splice donor variant A/- del 2.5E-04
Adult junctional epidermolysis bullosa (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 3 1999 2004
dbSNP: rs752317971
rs752317971
1.000 0.080 10 104043852 stop gained C/A;G snv 8.0E-06
Adult junctional epidermolysis bullosa (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 1997 2011
dbSNP: rs775196743
rs775196743
1.000 0.080 10 104080649 stop gained G/A snv 8.0E-06 1.4E-05
Adult junctional epidermolysis bullosa (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2003 2003
dbSNP: rs1064793760
rs1064793760
1.000 0.080 10 104034179 frameshift variant T/- del
Adult junctional epidermolysis bullosa (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912769
rs121912769
0.925 0.080 10 104034711 stop gained G/A snv 2.1E-05 1.4E-05
Adult junctional epidermolysis bullosa (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912770
rs121912770
1.000 0.080 10 104038409 stop gained G/A snv 4.0E-06
Adult junctional epidermolysis bullosa (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912772
rs121912772
1.000 0.080 10 104041526 stop gained A/C snv
Adult junctional epidermolysis bullosa (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912774
rs121912774
0.925 0.080 10 104072062 stop gained G/A snv 4.0E-06
Adult junctional epidermolysis bullosa (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs760094345
rs760094345
1.000 0.080 10 104076418 stop gained G/A;C snv 8.0E-06; 4.0E-06
Adult junctional epidermolysis bullosa (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs797045084
rs797045084
1.000 0.080 10 104043576 splice acceptor variant CCCTCTGAAAAC/- delins
Adult junctional epidermolysis bullosa (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0