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 0.010 1.000 1 2019 2019
dbSNP: rs1423914418
rs1423914418
LIPA
2 0.925 0.080 10 89228242 missense variant T/C snv 1.6E-05 7.0E-06 0.010 1.000 1 2020 2020
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