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: rs1412444
rs1412444
LIPA
4 0.851 0.120 10 89243170 intron variant C/T snv 0.37 0.710 1.000 3 2013 2018
dbSNP: rs2246942
rs2246942
LIPA
2 0.925 0.040 10 89245129 intron variant A/C;G snv 0.700 1.000 2 2017 2018
dbSNP: rs1051338
rs1051338
LIPA
7 0.807 0.120 10 89247603 missense variant T/G snv 0.32 0.26 0.020 1.000 2 2017 2019
dbSNP: rs1051339
rs1051339
LIPA
3 0.882 0.040 10 89247582 missense variant C/T snv 9.5E-02 0.13 0.010 1.000 1 2019 2019
dbSNP: rs2246833
rs2246833
LIPA
3 0.882 0.080 10 89246097 intron variant C/T snv 0.38 0.010 1.000 1 2013 2013