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: rs1223920489
rs1223920489
1.000 17 44558988 missense variant G/A snv
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
0.700 0
dbSNP: rs1555657045
rs1555657045
1.000 17 44558818 stop gained G/A snv
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
0.700 0
dbSNP: rs1555657074
rs1555657074
1.000 17 44558989 missense variant GC/TT mnv
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
0.700 0
dbSNP: rs1568105666
rs1568105666
0.925 0.120 17 44559332 stop gained G/A snv
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
0.700 0