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: rs749180806
rs749180806
LIPA
1 1.000 0.080 10 89228372 missense variant G/A snv 8.0E-06 2.1E-05 0.700 1.000 2 2014 2019
dbSNP: rs770407719
rs770407719
LIPA
3 0.925 0.080 10 89215021 missense variant G/A snv 1.6E-05 4.2E-05 0.010 1.000 1 1995 1995
dbSNP: rs797045094
rs797045094
LIPA
1 1.000 0.080 10 89228375 stop gained G/A;T snv 4.0E-06 0.700 0
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: rs121965087
rs121965087
LIPA
1 1.000 0.080 10 89245776 stop gained G/C snv 0.700 0
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: rs1554864404
rs1554864404
LIPA
1 1.000 0.080 10 89215944 stop gained G/T snv 0.700 0
dbSNP: rs762559980
rs762559980
LIPA
1 1.000 0.080 10 89226951 frameshift variant T/- delins 1.4E-05 0.700 1.000 1 2011 2011
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: 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