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: rs797045109
rs797045109
SYNE1
1 1.000 0.080 6 152442152 frameshift variant -/CC ins 0.700 1.000 3 2007 2013
dbSNP: rs886042380
rs886042380
SYNE1
2 0.925 0.120 6 152334218 frameshift variant T/- delins 0.700 1.000 2 2007 2013
dbSNP: rs1563130387
rs1563130387
SYNE1
1 1.000 0.080 6 152331386 frameshift variant G/- del 0.700 1.000 1 2017 2017
dbSNP: rs1564367104
rs1564367104
SYNE1
2 0.925 0.120 6 152483215 frameshift variant GA/- delins 0.700 1.000 1 2013 2013
dbSNP: rs119103243
rs119103243
SYNE1 ; SYNE1-AS1
1 1.000 0.080 6 152381320 stop gained T/A snv 2.8E-05 7.0E-06 0.700 0
dbSNP: rs119103244
rs119103244
SYNE1
1 1.000 0.080 6 152201838 stop gained G/A;T snv 0.700 0
dbSNP: rs119103245
rs119103245
SYNE1
1 1.000 0.080 6 152213737 stop gained G/A snv 0.700 0
dbSNP: rs1203553546
rs1203553546
SYNE1
1 1.000 0.080 6 152488422 stop gained C/A;T snv 0.700 0
dbSNP: rs1554226673
rs1554226673
SYNE1
1 1.000 0.080 6 152220971 stop gained G/T snv 0.700 0
dbSNP: rs1554247806
rs1554247806
SYNE1
1 1.000 0.080 6 152231460 frameshift variant A/- del 0.700 0
dbSNP: rs1554553667
rs1554553667
SYNE1
1 1.000 0.080 6 152206185 frameshift variant -/T delins 0.700 0
dbSNP: rs1554573328
rs1554573328
SYNE1
1 1.000 0.080 6 152213698 stop gained C/A snv 0.700 0
dbSNP: rs1554676394
rs1554676394
SYNE1
1 1.000 0.080 6 152425487 stop gained C/A snv 0.700 0
dbSNP: rs1554721227
rs1554721227
SYNE1
1 1.000 0.080 6 152449537 frameshift variant AC/- del 0.700 0
dbSNP: rs1554753528
rs1554753528
SYNE1
1 1.000 0.080 6 152463519 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1554768245
rs1554768245
SYNE1
16 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
dbSNP: rs1554829141
rs1554829141
SYNE1
1 1.000 0.080 6 152510291 frameshift variant AG/- delins 0.700 0
dbSNP: rs1562842409
rs1562842409
SYNE1
1 1.000 0.080 6 152293587 splice donor variant C/A;T snv 0.700 0
dbSNP: rs1563941569
rs1563941569
SYNE1
1 1.000 0.080 6 152427695 stop gained G/A snv 0.700 0
dbSNP: rs1564136499
rs1564136499
SYNE1
1 1.000 0.080 6 152453590 stop gained C/T snv 0.700 0
dbSNP: rs606231134
rs606231134
SYNE1
2 0.925 0.120 6 152321898 intron variant T/C snv 3.2E-05 3.5E-05 0.700 0
dbSNP: rs606231135
rs606231135
SYNE1
1 1.000 0.080 6 152347227 frameshift variant CA/- del 0.700 0
dbSNP: rs606231292
rs606231292
SYNE1
1 1.000 0.080 6 152354817 stop gained G/A snv 1.4E-05 0.700 0
dbSNP: rs746328978
rs746328978
SYNE1
2 0.925 0.120 6 152308620 stop gained G/A;T snv 8.4E-06 0.700 0
dbSNP: rs755531859
rs755531859
SYNE1
1 1.000 0.080 6 152510340 missense variant A/T snv 4.0E-06 0.700 0