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: rs753796180
rs753796180
LIPA
1 1.000 0.080 10 89228277 frameshift variant -/GG ins 8.0E-06 1.4E-05 0.700 0
dbSNP: rs756016704
rs756016704
LIPA
1 1.000 0.080 10 89228230 frameshift variant G/- del 2.0E-05 7.7E-05 0.700 0
dbSNP: rs797045094
rs797045094
LIPA
1 1.000 0.080 10 89228375 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs587778878
rs587778878
LIPA
1 1.000 0.080 10 89228368 missense variant C/A snv 8.0E-06 0.710 1.000 7 1990 2013
dbSNP: rs1423914418
rs1423914418
LIPA
2 0.925 0.080 10 89228242 missense variant T/C snv 1.6E-05 7.0E-06 0.710 1.000 3 1994 2020
dbSNP: rs267607218
rs267607218
LIPA
2 0.925 0.080 10 89223710 stop gained C/A snv 4.0E-06 3.5E-05 0.710 1.000 3 1996 2015
dbSNP: rs776472526
rs776472526
LIPA
1 1.000 0.080 10 89215004 missense variant C/T snv 8.0E-06 3.5E-05 0.710 1.000 3 1999 2015
dbSNP: rs1457072724
rs1457072724
LIPA
1 1.000 0.080 10 89228209 stop gained C/T snv 7.0E-06 0.710 1.000 1 2012 2012
dbSNP: rs116928232
rs116928232
LIPA
9 0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04 0.740 1.000 13 1993 2019
dbSNP: rs121965086
rs121965086
LIPA
2 0.925 0.080 10 89225168 missense variant A/G snv 8.0E-06 1.4E-05 0.800 1.000 9 1994 2015