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: rs869025215
rs869025215
0.925 0.200 3 184170088 frameshift variant G/- delins
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
0.700 0
dbSNP: rs869025216
rs869025216
0.925 0.200 3 184170317 splice acceptor variant A/G snv
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
0.700 0
dbSNP: rs869025217
rs869025217
0.925 0.200 3 184170318 splice acceptor variant G/A snv
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
0.700 0
dbSNP: rs869025218
rs869025218
0.925 0.200 3 184170320 frameshift variant C/- del
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
0.700 0
dbSNP: rs869025219
rs869025219
0.925 0.200 3 184170353 frameshift variant C/- del
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
0.700 0