Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs430397
rs430397 		0.763 0.240 9 125238840 intron variant C/T snv 9.1E-02 0.11
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2009 2016
dbSNP: rs391957
rs391957 		0.763 0.240 9 125241745 non coding transcript exon variant T/C snv 0.72
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2011 2013
dbSNP: rs430397
rs430397 		0.763 0.240 9 125238840 intron variant C/T snv 9.1E-02 0.11
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2009 2011
dbSNP: rs430397
rs430397 		0.763 0.240 9 125238840 intron variant C/T snv 9.1E-02 0.11
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.020 1.000 2 2009 2011
dbSNP: rs10986663
rs10986663 		1.000 0.080 9 125237222 intron variant A/G snv 1.3E-02
CUI: C0362046
Disease: Prediabetes syndrome
Prediabetes syndrome 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11355458
rs11355458 		1.000 0.080 9 125241510 upstream gene variant CC/-;C;CCC;CCCC delins
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2010 2010
dbSNP: rs1140763
rs1140763 		1.000 0.080 9 125235313 3 prime UTR variant G/A;C snv
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2010 2010
dbSNP: rs12009
rs12009 		1.000 0.080 9 125235024 3 prime UTR variant G/A;T snv 0.54
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2010 2010
dbSNP: rs16927997
rs16927997 		1.000 0.080 9 125236118 3 prime UTR variant A/G snv 1.1E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs17840761
rs17840761 		0.925 0.160 9 125241700 non coding transcript exon variant G/A snv 0.55
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs17840761
rs17840761 		0.925 0.160 9 125241700 non coding transcript exon variant G/A snv 0.55
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2010 2010
dbSNP: rs3216733
rs3216733 		0.882 0.240 9 125241510 upstream gene variant CC/-;C;CCC;CCCC delins
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs3216733
rs3216733 		0.882 0.240 9 125241510 upstream gene variant CC/-;C;CCC;CCCC delins
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia 		Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3216733
rs3216733 		0.882 0.240 9 125241510 upstream gene variant CC/-;C;CCC;CCCC delins
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs391957
rs391957 		0.763 0.240 9 125241745 non coding transcript exon variant T/C snv 0.72
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs391957
rs391957 		0.763 0.240 9 125241745 non coding transcript exon variant T/C snv 0.72
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs391957
rs391957 		0.763 0.240 9 125241745 non coding transcript exon variant T/C snv 0.72
CUI: C0740447
Disease: Diabetic peripheral neuropathy
Diabetic peripheral neuropathy 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs391957
rs391957 		0.763 0.240 9 125241745 non coding transcript exon variant T/C snv 0.72
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs391957
rs391957 		0.763 0.240 9 125241745 non coding transcript exon variant T/C snv 0.72
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs391957
rs391957 		0.763 0.240 9 125241745 non coding transcript exon variant T/C snv 0.72
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 1.000 1 2011 2011
dbSNP: rs391957
rs391957 		0.763 0.240 9 125241745 non coding transcript exon variant T/C snv 0.72
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs391957
rs391957 		0.763 0.240 9 125241745 non coding transcript exon variant T/C snv 0.72
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs391957
rs391957 		0.763 0.240 9 125241745 non coding transcript exon variant T/C snv 0.72
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs430397
rs430397 		0.763 0.240 9 125238840 intron variant C/T snv 9.1E-02 0.11
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs430397
rs430397 		0.763 0.240 9 125238840 intron variant C/T snv 9.1E-02 0.11
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2013 2013