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: rs201045495
rs201045495
0.925 6 56620664 stop gained G/A snv 3.2E-05 4.9E-05
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
0.700 1.000 2 2010 2015
dbSNP: rs398122943
rs398122943
1.000 6 56620289 stop gained T/A;C snv 4.0E-06
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
0.700 0
dbSNP: rs577972555
rs577972555
0.925 6 56620568 stop gained G/A;C;T snv 4.4E-05; 3.5E-04; 4.0E-06
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
0.700 0
dbSNP: rs748899221
rs748899221
0.925 6 56619477 frameshift variant TTCT/- delins 8.0E-06 7.0E-06
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
0.700 0
dbSNP: rs770035646
rs770035646
0.925 6 56619938 stop gained G/A;C snv 8.0E-06; 4.0E-06
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
0.700 0
dbSNP: rs778397331
rs778397331
0.925 6 56631281 stop gained G/A snv 4.0E-06
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
0.700 0