Source: BEFREE

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: rs2072590
rs2072590
HAGLR ; HAGLROS
0.851 0.120 2 176177905 non coding transcript exon variant A/C;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.720 1.000 2 2010 2017
dbSNP: rs2072590
rs2072590
HAGLR ; HAGLROS
0.851 0.120 2 176177905 non coding transcript exon variant A/C;T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.720 1.000 2 2010 2017
dbSNP: rs6232
rs6232
PCSK1 ; LOC101929710
0.925 0.080 5 96416081 missense variant T/C snv 3.9E-02 3.2E-02
CUI: C0028754
Disease: Obesity
Obesity 		0.100 1.000 13 2006 2019
dbSNP: rs6235
rs6235
PCSK1 ; LOC101929710
0.925 0.120 5 96393194 missense variant C/G snv 0.26 0.23
CUI: C0028754
Disease: Obesity
Obesity 		0.100 0.700 10 2008 2015
dbSNP: rs6234
rs6234
PCSK1 ; LOC101929710
0.851 0.160 5 96393270 missense variant G/C snv 0.27 0.24
CUI: C0028754
Disease: Obesity
Obesity 		0.050 0.600 5 2008 2015
dbSNP: rs1799930
rs1799930
NAT2
0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2010 2017
dbSNP: rs1799930
rs1799930
NAT2
0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2010 2017
dbSNP: rs1799930
rs1799930
NAT2
0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 1.000 3 1997 2014
dbSNP: rs1799930
rs1799930
NAT2
0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 1.000 3 1997 2014
dbSNP: rs1208
rs1208
NAT2
0.807 0.080 8 18400806 missense variant G/A;T snv 0.62; 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.020 1.000 2 2015 2019
dbSNP: rs1799930
rs1799930
NAT2
0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27
CUI: C0021364
Disease: Male infertility
Male infertility 		0.020 1.000 2 2014 2018
dbSNP: rs1799931
rs1799931
NAT2
0.742 0.320 8 18400860 missense variant G/A snv 5.8E-02 3.9E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2010 2012
dbSNP: rs1799931
rs1799931
NAT2
0.742 0.320 8 18400860 missense variant G/A snv 5.8E-02 3.9E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.020 1.000 2 2009 2013
dbSNP: rs1799931
rs1799931
NAT2
0.742 0.320 8 18400860 missense variant G/A snv 5.8E-02 3.9E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 1997 2014
dbSNP: rs1799931
rs1799931
NAT2
0.742 0.320 8 18400860 missense variant G/A snv 5.8E-02 3.9E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 1997 2014
dbSNP: rs1801280
rs1801280
NAT2
0.716 0.440 8 18400344 missense variant T/C snv 0.38 0.39
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2010 2012
dbSNP: rs2072590
rs2072590
HAGLR ; HAGLROS
0.851 0.120 2 176177905 non coding transcript exon variant A/C;T snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.020 1.000 2 2012 2017
dbSNP: rs6232
rs6232
PCSK1 ; LOC101929710
0.925 0.080 5 96416081 missense variant T/C snv 3.9E-02 3.2E-02
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity 		0.020 1.000 2 2014 2017
dbSNP: rs843720
rs843720
ACYP2 ; LOC105374610
0.752 0.280 2 54283523 intron variant T/G snv 0.52
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.020 1.000 2 2017 2019
dbSNP: rs843720
rs843720
ACYP2 ; LOC105374610
0.752 0.280 2 54283523 intron variant T/G snv 0.52
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		0.020 1.000 2 2017 2019
dbSNP: rs843720
rs843720
ACYP2 ; LOC105374610
0.752 0.280 2 54283523 intron variant T/G snv 0.52
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		0.020 1.000 2 2017 2019
dbSNP: rs1041983
rs1041983
NAT2
0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs1041983
rs1041983
NAT2
0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36
CUI: C0521839
Disease: Influenza-like illness
Influenza-like illness 		0.010 1.000 1 2017 2017
dbSNP: rs1041983
rs1041983
NAT2
0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36
CUI: C0006145
Disease: Breast Diseases
Breast Diseases 		0.010 1.000 1 2016 2016
dbSNP: rs1041983
rs1041983
NAT2
0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36
CUI: C0392171
Disease: Influenza-like symptoms
Influenza-like symptoms 		0.010 1.000 1 2017 2017