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: 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: rs772638759
rs772638759
ALPL
1 1.000 0.080 1 21577624 frameshift variant ACCCCCTGAGCGTCCT/- delins 1.3E-05 1.4E-05 0.700 0
dbSNP: rs786204634
rs786204634
ALPL
1 1.000 0.080 1 21570321 stop gained G/A snv 8.0E-06 0.700 1.000 2 1998 1999
dbSNP: rs121918016
rs121918016
ALPL
1 1.000 0.080 1 21577439 missense variant G/A snv 0.800 1.000 4 1994 2001
dbSNP: rs121918017
rs121918017
ALPL
1 1.000 0.080 1 21573694 missense variant G/A;C snv 2.0E-05 0.800 1.000 4 1994 2001
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
dbSNP: rs1054159992
rs1054159992
ALPL
2 0.925 0.080 1 21577448 missense variant G/A;T snv 7.0E-06 0.710 1.000 5 1994 2002
dbSNP: rs786204473
rs786204473
ALPL
4 0.925 0.080 1 21573673 missense variant G/A snv 0.700 1.000 3 1998 2002
dbSNP: rs1553412310
rs1553412310
ALPL
1 1.000 0.080 1 21563204 frameshift variant G/- del 0.700 1.000 1 2002 2002
dbSNP: rs1553414133
rs1553414133
ALPL
1 1.000 0.080 1 21573764 frameshift variant G/- delins 0.700 1.000 1 2003 2003
dbSNP: rs1057516702
rs1057516702
ALPL
1 1.000 0.080 1 21573727 frameshift variant TC/- delins 0.700 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: rs1553414843
rs1553414843
ALPL
1 1.000 0.080 1 21576545 frameshift variant GACA/- delins 0.700 1.000 1 2005 2005
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: rs775133233
rs775133233
ALPP
1 1.000 0.080 2 232379612 missense variant G/C snv 2.4E-05 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs138690664
rs138690664
ALPL
4 0.851 0.120 1 21577421 missense variant C/G;T snv 1.6E-05 3.5E-05 0.010 1.000 1 2006 2006
dbSNP: rs1057517391
rs1057517391
ALPL
1 1.000 0.080 1 21573801 splice donor variant T/A;G snv 0.700 1.000 2 2005 2008
dbSNP: rs769948289
rs769948289
ALPL
1 1.000 0.080 1 21568112 frameshift variant G/-;GG delins 8.0E-06 7.0E-06 0.700 1.000 1 2008 2008
dbSNP: rs786204442
rs786204442
ALPL
1 1.000 0.080 1 21568246 missense variant A/G snv 1.4E-05 0.700 1.000 1 2008 2008
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: rs371243939
rs371243939
ALPL
3 0.882 0.080 1 21575906 missense variant C/T snv 1.2E-05 1.4E-05 0.700 1.000 4 1999 2009
dbSNP: rs121918019
rs121918019
ALPL
3 0.882 0.080 1 21564094 missense variant G/A;C snv 9.2E-05 0.700 1.000 3 2000 2009
dbSNP: rs387906525
rs387906525
ALPL
2 0.925 0.080 1 21577632 frameshift variant T/- del 8.7E-06; 1.3E-05 0.700 1.000 5 1998 2010
dbSNP: rs755529290
rs755529290
ALPL
1 1.000 0.080 1 21573693 stop gained C/A;T snv 1.2E-05; 8.0E-06 0.700 1.000 1 2010 2010