Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554675388
rs1554675388
PLEC
5 0.827 0.160 8 143918471 stop gained G/A snv 0.700 1.000 4 1996 2013
dbSNP: rs1554689309
rs1554689309
PLEC
5 0.827 0.160 8 143922314 frameshift variant AGGC/- delins 0.700 1.000 3 1996 2010
dbSNP: rs1554683108
rs1554683108
PLEC
5 0.827 0.160 8 143920820 stop gained GC/AA mnv 0.700 1.000 2 2000 2013
dbSNP: rs111730406
rs111730406
PLEC
5 0.827 0.160 8 143927993 splice acceptor variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1060499581
rs1060499581
PLEC
5 0.827 0.160 8 143934427 stop gained G/A snv 0.700 0
dbSNP: rs387906801
rs387906801
PLEC
1 1.000 0.160 8 143923841 stop gained G/A snv 0.700 0
dbSNP: rs387906802
rs387906802
PLEC
1 1.000 0.160 8 143923055 stop gained G/A snv 2.1E-05 0.700 0
dbSNP: rs786205251
rs786205251
PLEC
1 1.000 0.160 8 143924146 frameshift variant -/GGATCTCC delins 0.700 0
dbSNP: rs786205253
rs786205253
PLEC
1 1.000 0.160 8 143924195 frameshift variant G/- del 0.700 0
dbSNP: rs786205254
rs786205254
PLEC
1 1.000 0.160 8 143924898 frameshift variant GCCGCGCC/- delins 0.700 0
dbSNP: rs864309674
rs864309674
PLEC
1 1.000 0.160 8 143917858 frameshift variant -/C delins 0.700 0