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: rs121918013
rs121918013
ALPL
5 0.827 0.120 1 21563158 missense variant G/A snv 0.700 1.000 5 2000 2011
dbSNP: rs786204530
rs786204530
ALPL
4 0.851 0.160 1 21563212 missense variant AC/CA mnv 0.700 1.000 7 2002 2012
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: rs121918000
rs121918000
ALPL
2 0.925 0.080 1 21564103 missense variant G/A snv 1.2E-05 0.700 1.000 5 1988 2012
dbSNP: rs199590449
rs199590449
ALPL
2 0.925 0.080 1 21564110 missense variant C/T snv 4.0E-05 7.0E-06 0.700 1.000 4 2001 2012
dbSNP: rs781264043
rs781264043
ALPL
1 1.000 0.080 1 21561130 missense variant T/C snv 4.0E-06 7.0E-06 0.700 1.000 2 2009 2012
dbSNP: rs766076920
rs766076920
ALPL
3 0.882 0.080 1 21568122 missense variant C/T snv 8.0E-06 2.1E-05 0.700 1.000 9 1998 2013
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: rs121918010
rs121918010
ALPL
5 0.827 0.200 1 21573781 missense variant T/C snv 7.2E-05 4.2E-05 0.810 1.000 10 1994 2014
dbSNP: rs121918009
rs121918009
ALPL
4 0.851 0.080 1 21575736 missense variant G/A snv 0.700 1.000 9 1993 2014
dbSNP: rs199665722
rs199665722
ALPL
2 0.925 0.080 1 21568123 missense variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 7 2002 2014
dbSNP: rs1057516230
rs1057516230
ALPL
2 0.925 0.080 1 21554124 frameshift variant AACT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1057516334
rs1057516334
ALPL
1 1.000 0.080 1 21560652 stop gained C/T snv 1.4E-05 0.700 1.000 1 2014 2014
dbSNP: rs763159520
rs763159520
ALPL
2 0.925 0.080 1 21564118 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 9 1998 2015
dbSNP: rs1344601362
rs1344601362
ALPL
1 1.000 0.080 1 21575914 frameshift variant CT/- delins 0.700 1.000 1 2015 2015
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: rs763244290
rs763244290
ALPL
1 1.000 0.080 1 21560692 frameshift variant T/- delins 0.700 1.000 1 2015 2015
dbSNP: rs149889416
rs149889416
ALPL
3 0.882 0.160 1 21577436 missense variant G/A snv 4.5E-05 3.5E-05 0.700 1.000 5 2004 2016
dbSNP: rs1413274209
rs1413274209
ALPL
3 0.882 0.080 1 21577544 missense variant G/A snv 8.3E-06 2.1E-05 0.700 1.000 4 1998 2016
dbSNP: rs1057517322
rs1057517322
ALPL
1 1.000 0.080 1 21575813 frameshift variant -/GCAG delins 0.700 1.000 1 2016 2016
dbSNP: rs1553414560
rs1553414560
ALPL
1 1.000 0.080 1 21575774 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs121918001
rs121918001
ALPL
3 0.882 0.080 1 21561126 missense variant C/A;T snv 0.700 1.000 6 1992 2017
dbSNP: rs121918014
rs121918014
ALPL
5 0.827 0.120 1 21576582 missense variant A/G snv 2.0E-05 5.6E-05 0.700 1.000 6 2001 2017
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: rs121918011
rs121918011
ALPL
4 0.851 0.080 1 21563219 missense variant G/A;C snv 1.4E-04 0.700 1.000 11 1999 2018