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: rs1057516293
rs1057516293
ALPL
1 1.000 0.080 1 21560694 stop gained C/T snv 0.700 0
dbSNP: rs1057516526
rs1057516526
ALPL
1 1.000 0.080 1 21570349 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1057516622
rs1057516622
ALPL
1 1.000 0.080 1 21575731 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1057517173
rs1057517173
ALPL
1 1.000 0.080 1 21577499 stop gained G/T snv 0.700 0
dbSNP: rs1057517304
rs1057517304
ALPL
1 1.000 0.080 1 21561214 splice donor variant T/A snv 0.700 0
dbSNP: rs1057517321
rs1057517321
ALPL
1 1.000 0.080 1 21560676 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517337
rs1057517337
ALPL
1 1.000 0.080 1 21577598 frameshift variant CCTGCTGCTCGCGCTGGCCC/- delins 0.700 0
dbSNP: rs121918002
rs121918002
ALPL
4 0.851 0.080 1 21573683 missense variant A/C snv 3.6E-05 7.0E-05 0.700 0
dbSNP: rs121918003
rs121918003
ALPL
2 0.925 0.080 1 21561127 missense variant G/A;C snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs121918004
rs121918004
ALPL
2 0.925 0.080 1 21564188 missense variant A/C snv 0.700 0
dbSNP: rs121918005
rs121918005
ALPL
2 0.925 0.080 1 21560662 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs121918006
rs121918006
ALPL
2 0.925 0.080 1 21576638 missense variant T/C snv 0.700 0
dbSNP: rs121918020
rs121918020
ALPL
2 0.925 0.080 1 21570326 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs1553411779
rs1553411779
ALPL
1 1.000 0.080 1 21560651 stop gained G/A snv 0.700 0
dbSNP: rs1553411890
rs1553411890
ALPL
1 1.000 0.080 1 21561095 splice region variant -/G delins 0.700 0
dbSNP: rs1553411920
rs1553411920
ALPL
1 1.000 0.080 1 21561138 frameshift variant -/TCAG delins 0.700 0
dbSNP: rs1553413512
rs1553413512
ALPL
1 1.000 0.080 1 21570375 splice donor variant G/A snv 0.700 0
dbSNP: rs1553414600
rs1553414600
ALPL
2 1.000 0.080 1 21575847 frameshift variant CT/- delins 0.700 0
dbSNP: rs1553415035
rs1553415035
ALPL
1 1.000 0.080 1 21577397 stop gained C/T snv 0.700 0
dbSNP: rs1553415164
rs1553415164
ALPL
2 1.000 0.080 1 21577631 frameshift variant CT/- del 0.700 0
dbSNP: rs1558543066
rs1558543066
ALPL
1 1.000 0.080 1 21554099 frameshift variant A/- del 0.700 0
dbSNP: rs1558557341
rs1558557341
ALPL
1 1.000 0.080 1 21575832 inframe deletion CTC/- delins 0.700 0
dbSNP: rs750174638
rs750174638
ALPL
1 1.000 0.080 1 21564086 frameshift variant C/- delins 1.6E-05 7.0E-06 0.700 0
dbSNP: rs751404811
rs751404811
ALPL
2 0.925 0.080 1 21575901 frameshift variant C/-;CC delins 2.4E-05 0.700 0
dbSNP: rs764322898
rs764322898
ALPL
1 1.000 0.080 1 21554144 splice donor variant T/G snv 4.0E-06 0.700 0