Source: ALL

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: rs1057519718
rs1057519718
0.925 0.160 7 140753355 missense variant CA/TC mnv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.010 1.000 1 2011 2011
dbSNP: rs1057519719
rs1057519719
1.000 0.080 7 140781593 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2012 2012
dbSNP: rs1057519720
rs1057519720
0.851 0.080 7 140781602 missense variant CC/AA;GA mnv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 1.000 1 2013 2013
dbSNP: rs1057519720
rs1057519720
0.851 0.080 7 140781602 missense variant CC/AA;GA mnv
CUI: C4744444
Disease: Metastatic Lung Adenocarcinoma
Metastatic Lung Adenocarcinoma
0.010 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0267026
Disease: Actinic cheilitis
Actinic cheilitis
0.010 < 0.001 1 2015 2015
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1334243
Disease: Intracranial Melanoma
Intracranial Melanoma
0.010 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions
0.010 1.000 1 2003 2003
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0031941
Disease: Pineal Gland Neoplasm
Pineal Gland Neoplasm
0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0001206
Disease: Acromegaly
Acromegaly
0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
Human immunodeficiency virus (HIV) II infection category B1
0.010 1.000 1 2006 2006
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0017653
Disease: Glomus Tumor
Glomus Tumor
0.010 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0080032
Disease: Pleural Effusion, Malignant
Pleural Effusion, Malignant
0.010 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C3263719
Disease: Primary acquired melanosis
Primary acquired melanosis
0.010 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0677936
Disease: Refractory cancer
Refractory cancer
0.010 1.000 1 2014 2014
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1402315
Disease: Vascular lesions
Vascular lesions
0.010 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1301194
Disease: Salivary duct carcinoma
Salivary duct carcinoma
0.010 1.000 1 2018 2018
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1298180
Disease: Single tumor
Single tumor
0.010 1.000 1 2018 2018
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C3472623
Disease: Serrated adenocarcinoma
Serrated adenocarcinoma
0.010 1.000 1 2014 2014
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
Pancreatic Intraductal Papillary Mucinous Neoplasm
0.010 1.000 1 2020 2020
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.010 1.000 1 2008 2008
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.010 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0848860
Disease: endocrine carcinoma
endocrine carcinoma
0.010 1.000 1 2004 2004
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
Mesial temporal lobe epilepsy with hippocampal sclerosis
0.010 1.000 1 2018 2018
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0016045
Disease: fibroma
fibroma
0.010 1.000 1 2014 2014