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: rs121434318
rs121434318
SPRED1
1 1.000 0.080 15 38299471 missense variant T/A snv 0.800 1.000 4 2007 2011
dbSNP: rs1057517941
rs1057517941
SPRED1
1 1.000 0.080 15 38299386 stop gained C/T snv 7.0E-06 0.710 1.000 4 2009 2017
dbSNP: rs121434312
rs121434312
SPRED1
1 1.000 0.080 15 38322382 stop gained C/T snv 0.710 1.000 4 2007 2015
dbSNP: rs878855228
rs878855228
SPRED1
1 1.000 0.080 15 38351478 frameshift variant AG/- delins 0.700 1.000 5 2005 2011
dbSNP: rs1566876954
rs1566876954
SPRED1
1 1.000 0.080 15 38351379 frameshift variant A/- delins 0.700 1.000 4 2007 2011
dbSNP: rs121434313
rs121434313
SPRED1
1 1.000 0.080 15 38299410 stop gained C/T snv 7.0E-06 0.700 1.000 3 2007 2011
dbSNP: rs121434315
rs121434315
SPRED1
1 1.000 0.080 15 38299530 stop gained C/T snv 0.700 1.000 3 2007 2011
dbSNP: rs750777752
rs750777752
SPRED1
1 1.000 0.080 15 38299392 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 3 2009 2011
dbSNP: rs1555392609
rs1555392609
SPRED1
1 1.000 0.080 15 38349515 stop gained C/T snv 0.700 1.000 2 2007 2012
dbSNP: rs1057518683
rs1057518683
SPRED1
1 1.000 0.080 15 38351302 stop gained C/T snv 0.700 1.000 1 2007 2007
dbSNP: rs121434316
rs121434316
SPRED1
1 1.000 0.080 15 38349476 stop gained C/T snv 0.700 1.000 1 2009 2009
dbSNP: rs1555391053
rs1555391053
SPRED1
1 1.000 0.080 15 38322336 frameshift variant -/A delins 0.700 1.000 1 2011 2011
dbSNP: rs864622410
rs864622410
SPRED1
1 1.000 0.080 15 38351125 frameshift variant AT/- del 0.700 1.000 1 2007 2007
dbSNP: rs1060502505
rs1060502505
SPRED1
1 1.000 0.080 15 38324807 stop gained C/T snv 0.700 0
dbSNP: rs121434314
rs121434314
SPRED1
1 1.000 0.080 15 38349482 stop gained C/G;T snv 0.700 0
dbSNP: rs121434317
rs121434317
SPRED1
1 1.000 0.080 15 38351113 stop gained A/T snv 0.700 0
dbSNP: rs1555386649
rs1555386649
SPRED1 ; LOC107984760
1 1.000 0.080 15 38253186 frameshift variant AT/- del 0.700 0
dbSNP: rs1555386651
rs1555386651
SPRED1 ; LOC107984760
1 1.000 0.080 15 38253191 frameshift variant GAGGAGACGGCGAC/- delins 0.700 0
dbSNP: rs1555386654
rs1555386654
SPRED1 ; LOC107984760
1 1.000 0.080 15 38253209 frameshift variant T/- del 0.700 0
dbSNP: rs1555389690
rs1555389690
SPRED1
1 1.000 0.080 15 38299443 stop gained G/T snv 0.700 0
dbSNP: rs1555391061
rs1555391061
SPRED1
1 1.000 0.080 15 38322373 frameshift variant AG/- delins 0.700 0
dbSNP: rs1555391161
rs1555391161
SPRED1
1 1.000 0.080 15 38324811 splice donor variant T/C snv 0.700 0
dbSNP: rs1555392750
rs1555392750
SPRED1
1 1.000 0.080 15 38351208 frameshift variant -/TA delins 0.700 0
dbSNP: rs1555392759
rs1555392759
SPRED1
1 1.000 0.080 15 38351250 frameshift variant CT/- delins 0.700 0
dbSNP: rs1555392783
rs1555392783
SPRED1
1 1.000 0.080 15 38351424 frameshift variant AGTT/- delins 0.700 0