ACP1, acid phosphatase 1, 52

N. diseases: 107; N. variants: 5
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: rs11553746
rs11553746
1.000 0.080 2 272203 missense variant C/T snv 0.31 0.28
High density lipoprotein measurement
0.700 1.000 1 2017 2017
dbSNP: rs58461606
rs58461606
2 267367 intron variant G/T snv 0.30
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs79716074
rs79716074
2 277003 missense variant A/G snv 0.31 0.30
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs11553746
rs11553746
1.000 0.080 2 272203 missense variant C/T snv 0.31 0.28
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs765467335
rs765467335
1.000 0.160 2 277247 missense variant G/T snv 1.2E-05
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs774121564
rs774121564
1.000 0.040 2 275197 missense variant C/G snv 4.1E-06
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.010 1.000 1 2013 2013