Source: GWASDB

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs13391552
rs13391552
ALMS1
2 73591809 intron variant G/A;C snv
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.700 1.000 1 2011 2011
dbSNP: rs13391552
rs13391552
ALMS1
2 73591809 intron variant G/A;C snv
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 1.000 1 2011 2011
dbSNP: rs34183407
rs34183407
ALMS1
2 73454052 missense variant C/T snv 2.1E-05 3.5E-05
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34183407
rs34183407
ALMS1
2 73454052 missense variant C/T snv 2.1E-05 3.5E-05
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34183407
rs34183407
ALMS1
2 73454052 missense variant C/T snv 2.1E-05 3.5E-05
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34183407
rs34183407
ALMS1
2 73454052 missense variant C/T snv 2.1E-05 3.5E-05
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34183407
rs34183407
ALMS1
2 73454052 missense variant C/T snv 2.1E-05 3.5E-05
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34183407
rs34183407
ALMS1
2 73454052 missense variant C/T snv 2.1E-05 3.5E-05
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6546837
rs6546837
ALMS1
2 73450771 missense variant G/C;T snv 0.27
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.700 1.000 1 2011 2011
dbSNP: rs9309473
rs9309473
ALMS1
2 73516855 intron variant A/G snv 0.31
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2011 2011