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: rs121908402
rs121908402
0.882 0.280 6 41161277 missense variant A/C snv 1.2E-05
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
0.800 1.000 9 2002 2017
dbSNP: rs28939079
rs28939079
1.000 6 41159873 missense variant T/C snv 4.0E-06
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
0.800 1.000 9 2002 2017
dbSNP: rs28937876
rs28937876
1.000 6 41158991 missense variant C/A snv
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
0.800 0
dbSNP: rs104894002
rs104894002
0.790 0.320 6 41161557 stop gained G/A snv 2.0E-05 2.1E-05
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
0.700 1.000 5 2003 2017
dbSNP: rs104893998
rs104893998
0.925 0.240 6 41161421 stop gained C/T snv 8.0E-06
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
0.700 1.000 1 2002 2002
dbSNP: rs104894001
rs104894001
1.000 6 41161522 stop gained C/T snv 1.2E-05 7.0E-06
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
0.700 1.000 1 2002 2002
dbSNP: rs386834143
rs386834143
0.925 0.240 6 41163043 stop gained C/A snv
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
0.700 1.000 1 2003 2003