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: rs1554869292
rs1554869292
LIPA
1 1.000 0.080 10 89247536 splice donor variant A/C snv 0.700 0
dbSNP: rs1564751995
rs1564751995
LIPA
1 1.000 0.080 10 89222510 splice donor variant C/T snv 0.700 0
dbSNP: rs753796180
rs753796180
LIPA
1 1.000 0.080 10 89228277 frameshift variant -/GG ins 8.0E-06 1.4E-05 0.700 0
dbSNP: rs756016704
rs756016704
LIPA
1 1.000 0.080 10 89228230 frameshift variant G/- del 2.0E-05 7.7E-05 0.700 0
dbSNP: rs797045094
rs797045094
LIPA
1 1.000 0.080 10 89228375 stop gained G/A;T snv 4.0E-06 0.700 0
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: 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