Source: GWASCAT

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: rs1805081
rs1805081
NPC1
0.925 0.120 18 23560468 missense variant T/C snv 0.33 0.29
CUI: C0028754
Disease: Obesity
Obesity 		0.830 1.000 1 2009 2013
dbSNP: rs1808579
rs1808579
NPC1 ; RMC1
18 23524924 intron variant C/T snv 0.47
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 4 2015 2019
dbSNP: rs1788820
rs1788820
NPC1 ; RMC1
18 23521980 intron variant A/G snv 0.69
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2017 2018
dbSNP: rs147694761
rs147694761
NPC1
18 23571654 intron variant AAAA/-;A;AA;AAA;AAAAA;AAAAAA delins
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs147694761
rs147694761
NPC1
18 23571654 intron variant AAAA/-;A;AA;AAA;AAAAA;AAAAAA delins
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs147694761
rs147694761
NPC1
18 23571654 intron variant AAAA/-;A;AA;AAA;AAAAA;AAAAAA delins
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs147694761
rs147694761
NPC1
18 23571654 intron variant AAAA/-;A;AA;AAA;AAAAA;AAAAAA delins
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs147694761
rs147694761
NPC1
18 23571654 intron variant AAAA/-;A;AA;AAA;AAAAA;AAAAAA delins
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs1623003
rs1623003
NPC1
1.000 0.040 18 23585199 intron variant C/T snv 0.74
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.700 1.000 1 2018 2018
dbSNP: rs177430
rs177430
NPC1 ; RMC1
18 23506161 intron variant C/A;T snv
CUI: C0562350
Disease: Hip circumference
Hip circumference 		0.700 1.000 1 2017 2017
dbSNP: rs177430
rs177430
NPC1 ; RMC1
18 23506161 intron variant C/A;T snv
CUI: C0005910
Disease: Body Weight
Body Weight 		0.700 1.000 1 2017 2017
dbSNP: rs177430
rs177430
NPC1 ; RMC1
18 23506161 intron variant C/A;T snv
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 1.000 1 2019 2019
dbSNP: rs177430
rs177430
NPC1 ; RMC1
18 23506161 intron variant C/A;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs1788783
rs1788783
NPC1
18 23581170 intron variant C/T snv 0.52
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1788783
rs1788783
NPC1
18 23581170 intron variant C/T snv 0.52
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1788799
rs1788799
NPC1
1.000 0.080 18 23544981 missense variant C/A;G;T snv 4.2E-06; 0.73
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs1788808
rs1788808
NPC1 ; RMC1
18 23510059 intron variant A/C;G snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1808579
rs1808579
NPC1 ; RMC1
18 23524924 intron variant C/T snv 0.47
CUI: C0037369
Disease: Smoking
Smoking 		0.700 1.000 1 2017 2017
dbSNP: rs1808579
rs1808579
NPC1 ; RMC1
18 23524924 intron variant C/T snv 0.47
CUI: C0562350
Disease: Hip circumference
Hip circumference 		0.700 1.000 1 2015 2015
dbSNP: rs2472610
rs2472610
NPC1
18 23558901 intron variant T/C snv 0.73
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.700 1.000 1 2019 2019
dbSNP: rs4800490
rs4800490
NPC1
1.000 0.040 18 23546117 intron variant A/C;T snv
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 1.000 1 2019 2019
dbSNP: rs4800490
rs4800490
NPC1
1.000 0.040 18 23546117 intron variant A/C;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2019 2019
dbSNP: rs6507716
rs6507716
NPC1
18 23535096 intron variant A/G snv 0.51
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2015 2015
dbSNP: rs891387
rs891387
NPC1 ; RMC1
18 23523945 intron variant T/C snv 0.55
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs891387
rs891387
NPC1 ; RMC1
18 23523945 intron variant T/C snv 0.55
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019