Gene: LIPA ×
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: rs1554866097
rs1554866097
LIPA
1 1.000 0.080 10 89228345 missense variant A/T snv 0.700 1.000 2 2014 2019
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: 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: 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: 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