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: 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