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: 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: 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: rs1554865214
rs1554865214
LIPA
1 1.000 0.080 10 89222522 missense variant G/A snv 0.700 1.000 6 1994 2015
dbSNP: rs1554865206
rs1554865206
LIPA
1 1.000 0.080 10 89222513 stop gained G/A snv 0.700 1.000 2 1996 1996
dbSNP: rs1554866097
rs1554866097
LIPA
1 1.000 0.080 10 89228345 missense variant A/T snv 0.700 1.000 2 2014 2019
dbSNP: rs747508159
rs747508159
LIPA
1 1.000 0.080 10 89223832 splice acceptor variant T/A;C snv 4.0E-06 0.700 1.000 2 1996 2015
dbSNP: rs767688436
rs767688436
LIPA
1 1.000 0.080 10 89228334 missense variant G/C snv 1.2E-05 0.700 1.000 2 2015 2019
dbSNP: rs1357012145
rs1357012145
LIPF
1 1.000 0.080 10 88678487 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs1554866004
rs1554866004
LIPA
1 1.000 0.080 10 89228199 splice donor variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs766364179
rs766364179
LIPA
1 1.000 0.080 10 89228319 missense variant G/T snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs771640357
rs771640357
LIPA
3 0.882 0.120 10 89215938 missense variant C/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs775189464
rs775189464
LIPF
1 1.000 0.080 10 88678446 missense variant C/G;T snv 4.0E-06; 5.6E-05 0.010 1.000 1 1999 1999
dbSNP: rs939203331
rs939203331
UGT8
1 1.000 0.080 4 114623206 missense variant A/G snv 0.010 1.000 1 1998 1998
dbSNP: rs121965087
rs121965087
LIPA
1 1.000 0.080 10 89245776 stop gained G/C snv 0.700 0
dbSNP: rs1554864404
rs1554864404
LIPA
1 1.000 0.080 10 89215944 stop gained G/T snv 0.700 0
dbSNP: rs1554865199
rs1554865199
LIPA
1 1.000 0.080 10 89222509 splice donor variant A/G snv 0.700 0
dbSNP: rs1554865576
rs1554865576
LIPA
1 1.000 0.080 10 89225111 stop gained A/C snv 0.700 0
dbSNP: rs1554869292
rs1554869292
LIPA
1 1.000 0.080 10 89247536 splice donor variant A/C snv 0.700 0
dbSNP: rs1564751995
rs1564751995
LIPA
1 1.000 0.080 10 89222510 splice donor variant C/T snv 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: rs772684869
rs772684869
LIPA
1 1.000 0.080 10 89214958 missense variant A/G snv 4.0E-05 7.0E-06 0.700 1.000 2 2014 2019
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: 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: rs1204744283
rs1204744283
LIPA
1 1.000 0.080 10 89223683 splice donor variant C/G;T snv 7.0E-06 0.700 0
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