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: rs72613567
rs72613567
HSD17B13
0.742 0.320 4 87310240 splice donor variant -/A delins 0.22
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.030 1.000 3 2019 2020
dbSNP: rs72613567
rs72613567
HSD17B13
0.742 0.320 4 87310240 splice donor variant -/A delins 0.22
CUI: C0341439
Disease: Chronic liver disease
Chronic liver disease 		0.030 1.000 3 2019 2020
dbSNP: rs72613567
rs72613567
HSD17B13
0.742 0.320 4 87310240 splice donor variant -/A delins 0.22
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.030 1.000 3 2019 2019
dbSNP: rs72613567
rs72613567
HSD17B13
0.742 0.320 4 87310240 splice donor variant -/A delins 0.22
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.020 1.000 2 2019 2020
dbSNP: rs72613567
rs72613567
HSD17B13
0.742 0.320 4 87310240 splice donor variant -/A delins 0.22
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.020 0.500 2 2019 2020
dbSNP: rs72613567
rs72613567
HSD17B13
0.742 0.320 4 87310240 splice donor variant -/A delins 0.22
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.020 1.000 2 2019 2020
dbSNP: rs72613567
rs72613567
HSD17B13
0.742 0.320 4 87310240 splice donor variant -/A delins 0.22
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.020 1.000 2 2019 2020
dbSNP: rs1057519682
rs1057519682
LDLR
0.925 0.080 19 11120458 frameshift variant -/A delins
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.010 1.000 1 2010 2010
dbSNP: rs1131691041
rs1131691041
TP53
17 7676271 frameshift variant -/A delins
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.010 1.000 1 2017 2017
dbSNP: rs1131691041
rs1131691041
TP53
17 7676271 frameshift variant -/A delins
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2017 2017
dbSNP: rs11368509
rs11368509
UPP2
1.000 0.040 2 158102039 frameshift variant -/A ins 8.0E-05; 6.3E-02 0.10
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2014 2014
dbSNP: rs11428092
rs11428092
USP34
1.000 0.040 2 61301164 intron variant -/A delins 0.34
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.010 1.000 1 2017 2017
dbSNP: rs1166208736
rs1166208736
RIMS2
1.000 0.080 8 104251126 frameshift variant -/A delins
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.010 1.000 1 2006 2006
dbSNP: rs143046984
rs143046984
PCNX1 ; LOC105370557
0.790 0.080 14 70937529 intron variant -/A delins 4.2E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.710 1.000 1 2016 2016
dbSNP: rs1443187318
rs1443187318
AEBP1
0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.010 1.000 1 2019 2019
dbSNP: rs34208922
rs34208922
ELN
1.000 7 74069201 3 prime UTR variant -/A ins 0.30
CUI: C0745133
Disease: Isolated systolic hypertension
Isolated systolic hypertension 		0.010 1.000 1 2009 2009
dbSNP: rs45487298
rs45487298
HSD11B1 ; HSD11B1-AS1
0.882 0.120 1 209706871 intron variant -/A delins
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2019 2019
dbSNP: rs45487298
rs45487298
HSD11B1 ; HSD11B1-AS1
0.882 0.120 1 209706871 intron variant -/A delins
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2019 2019
dbSNP: rs45487298
rs45487298
HSD11B1 ; HSD11B1-AS1
0.882 0.120 1 209706871 intron variant -/A delins
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 1.000 1 2015 2015
dbSNP: rs60542319
rs60542319
COL2A1
1.000 0.040 12 48001261 intron variant -/A delins 3.7E-04
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.010 < 0.001 1 2012 2012
dbSNP: rs72613567
rs72613567
HSD17B13
0.742 0.320 4 87310240 splice donor variant -/A delins 0.22
CUI: C0810031
Disease: alcohol-related liver disease
alcohol-related liver disease 		0.010 1.000 1 2019 2019
dbSNP: rs72613567
rs72613567
HSD17B13
0.742 0.320 4 87310240 splice donor variant -/A delins 0.22
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.010 1.000 1 2018 2018
dbSNP: rs72613567
rs72613567
HSD17B13
0.742 0.320 4 87310240 splice donor variant -/A delins 0.22
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 < 0.001 1 2019 2019
dbSNP: rs72613567
rs72613567
HSD17B13
0.742 0.320 4 87310240 splice donor variant -/A delins 0.22
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 1.000 1 2019 2019
dbSNP: rs72613567
rs72613567
HSD17B13
0.742 0.320 4 87310240 splice donor variant -/A delins 0.22
CUI: C0023896
Disease: Alcoholic Liver Diseases
Alcoholic Liver Diseases 		0.010 1.000 1 2019 2019