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: 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: rs121918004
rs121918004
ALPL
2 0.925 0.080 1 21564188 missense variant A/C snv 0.700 0
dbSNP: rs121918006
rs121918006
ALPL
2 0.925 0.080 1 21576638 missense variant T/C snv 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: rs764908423
rs764908423
ALPL
1 1.000 0.080 1 21575749 frameshift variant -/G delins 0.700 0
dbSNP: rs768160006
rs768160006
ALPL
1 1.000 0.080 1 21573704 frameshift variant G/- delins 0.700 0
dbSNP: rs121918008
rs121918008
ALPL
4 0.851 0.080 1 21575868 missense variant A/T snv 4.0E-06 7.0E-06 0.700 1.000 6 1992 2012
dbSNP: rs771540767
rs771540767
ALPL
3 0.882 0.080 1 21575879 missense variant G/A snv 4.0E-06 0.710 1.000 8 1998 2013
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: rs764322898
rs764322898
ALPL
1 1.000 0.080 1 21554144 splice donor variant T/G snv 4.0E-06 0.700 0
dbSNP: rs781272386
rs781272386
ALPL
3 0.882 0.080 1 21570327 missense variant G/A;C;T snv 8.0E-06; 4.0E-06; 8.0E-06 0.700 1.000 3 2005 2017
dbSNP: rs121918007
rs121918007
ALPL
4 0.851 0.080 1 21564139 missense variant G/A;C snv 2.4E-03; 4.0E-06 0.700 1.000 5 1999 2009
dbSNP: rs762915678
rs762915678
ALPL
3 0.882 0.120 1 21563153 missense variant C/T snv 4.0E-06 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs1339693179
rs1339693179
ALPP
3 0.882 0.120 2 232379613 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs760134827
rs760134827
ALPL
1 1.000 0.080 1 21563237 frameshift variant C/- delins 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs749544042
rs749544042
ALPL
2 0.925 0.080 1 21564217 splice donor variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 1 2001 2001