rs2072183, NPC1L1

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Low density lipoprotein cholesterol measurement
1142 0.925 0.040 7 44539581 synonymous variant G/A;C snv 4.0E-06; 0.25 0.800 1.000 5 2010 2019
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
1243 0.925 0.040 7 44539581 synonymous variant G/A;C snv 4.0E-06; 0.25 0.800 1.000 3 2010 2017
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
555 0.925 0.040 7 44539581 synonymous variant G/A;C snv 4.0E-06; 0.25 0.700 1.000 2 2010 2013
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
62 0.925 0.040 7 44539581 synonymous variant G/A;C snv 4.0E-06; 0.25 0.010 1.000 1 2016 2016
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
90 0.925 0.040 7 44539581 synonymous variant G/A;C snv 4.0E-06; 0.25 0.010 1.000 1 2016 2016
Dyslipidemias
CUI: C0242339
Disease: Dyslipidemias
184 0.925 0.040 7 44539581 synonymous variant G/A;C snv 4.0E-06; 0.25 0.010 1.000 1 2014 2014