LIPA, lipase A, lysosomal acid type, 3988

N. diseases: 130; N. variants: 50
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1412444
rs1412444
0.851 0.120 10 89243170 intron variant C/T snv 0.37
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.800 1.000 2 2011 2011
dbSNP: rs2246942
rs2246942
0.925 0.040 10 89245129 intron variant A/C;G snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.710 1.000 2 2011 2013
dbSNP: rs2250781
rs2250781
1.000 0.040 10 89247713 5 prime UTR variant C/A snv 0.59
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1051338
rs1051338
0.807 0.120 10 89247603 missense variant T/G snv 0.32 0.26
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.020 1.000 2 2017 2019
dbSNP: rs1051339
rs1051339
0.882 0.040 10 89247582 missense variant C/T snv 9.5E-02 0.13
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.010 1.000 1 2019 2019