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: rs1057517195
rs1057517195
SMPD1
2 0.925 0.160 11 6391622 missense variant C/T snv 2.4E-05 3.5E-05 0.800 0
dbSNP: rs1057516432
rs1057516432
SMPD1
1 1.000 0.160 11 6393263 frameshift variant TC/- delins 0.700 0
dbSNP: rs1057516454
rs1057516454
SMPD1
1 1.000 0.160 11 6393616 splice acceptor variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1057516722
rs1057516722
SMPD1
1 1.000 0.160 11 6390766 stop gained G/A snv 0.700 0
dbSNP: rs1057516854
rs1057516854
SMPD1
1 1.000 0.160 11 6393895 splice acceptor variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1057516931
rs1057516931
SMPD1
1 1.000 0.160 11 6390797 stop gained C/T snv 0.700 0
dbSNP: rs1057517086
rs1057517086
SMPD1
1 1.000 0.160 11 6391483 frameshift variant TT/- delins 0.700 0
dbSNP: rs1057517098
rs1057517098
SMPD1
1 1.000 0.160 11 6390789 frameshift variant T/- delins 0.700 0
dbSNP: rs1057517200
rs1057517200
SMPD1
1 1.000 0.160 11 6394204 frameshift variant GT/- delins 0.700 0
dbSNP: rs1057517345
rs1057517345
SMPD1
1 1.000 0.160 11 6392059 frameshift variant CC/G delins 0.700 0
dbSNP: rs1057517390
rs1057517390
SMPD1
1 1.000 0.160 11 6393649 frameshift variant TCTG/- delins 0.700 0
dbSNP: rs120074120
rs120074120
SMPD1
2 1.000 0.160 11 6391853 stop gained T/A snv 4.0E-06 0.700 0
dbSNP: rs120074122
rs120074122
SMPD1
2 0.925 0.160 11 6391795 stop gained G/A;T snv 2.8E-05 0.700 0
dbSNP: rs1205990349
rs1205990349
SMPD1
1 1.000 0.160 11 6390626 stop gained C/T snv 0.700 0
dbSNP: rs1225462507
rs1225462507
SMPD1
1 1.000 0.160 11 6390918 splice donor variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs1428487333
rs1428487333
SMPD1
1 1.000 0.160 11 6390650 stop gained G/A;T snv 8.2E-06 0.700 0
dbSNP: rs1554933746
rs1554933746
SMPD1
1 1.000 0.160 11 6390654 frameshift variant A/- del 0.700 0
dbSNP: rs1554934210
rs1554934210
SMPD1
1 1.000 0.160 11 6391592 frameshift variant G/- delins 0.700 0
dbSNP: rs1554934309
rs1554934309
SMPD1
1 1.000 0.160 11 6391677 frameshift variant TCCTCACTGACCTGCACTGGGATCATGACTACCT/- delins 0.700 0
dbSNP: rs1554935254
rs1554935254
SMPD1
1 1.000 0.160 11 6393884 coding sequence variant -/TTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGC delins 0.700 0
dbSNP: rs1554935273
rs1554935273
SMPD1
1 1.000 0.160 11 6393927 frameshift variant G/- delins 0.700 0
dbSNP: rs1554935285
rs1554935285
SMPD1
1 1.000 0.160 11 6393934 frameshift variant C/- del 0.700 0
dbSNP: rs1554935600
rs1554935600
SMPD1
1 1.000 0.160 11 6394355 frameshift variant C/AA delins 0.700 0
dbSNP: rs1554935610
rs1554935610
SMPD1
1 1.000 0.160 11 6394376 stop gained G/A snv 0.700 0
dbSNP: rs371837210
rs371837210
SMPD1
1 1.000 0.160 11 6394267 missense variant A/G;T snv 0.700 0