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: rs1201894677
rs1201894677
6 43770833 missense variant G/A snv 1.6E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 1.000 2 2015 2015
dbSNP: rs1212415280
rs1212415280
6 43771130 missense variant G/T snv 2.1E-05
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior
0.010 1.000 1 2019 2019
dbSNP: rs1212415280
rs1212415280
6 43771130 missense variant G/T snv 2.1E-05
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 1.000 1 2012 2012
dbSNP: rs1346131223
rs1346131223
1.000 6 43777657 missense variant A/G snv 7.4E-06
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect
0.010 1.000 1 2017 2017
dbSNP: rs140461341
rs140461341
6 43782078 missense variant G/A snv 3.6E-05 4.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2017 2017
dbSNP: rs140461341
rs140461341
6 43782078 missense variant G/A snv 3.6E-05 4.2E-05
CUI: C1519680
Disease: Tumor Immunity
Tumor Immunity
0.010 1.000 1 2017 2017
dbSNP: rs1421145908
rs1421145908
6 43777618 missense variant G/A snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2015 2015
dbSNP: rs3025010
rs3025010
6 43779840 non coding transcript exon variant T/C;G snv
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
0.010 1.000 1 2019 2019
dbSNP: rs376388064
rs376388064
6 43782006 missense variant C/T snv 2.8E-05 3.5E-05
CUI: C0949664
Disease: Tauopathies
Tauopathies
0.010 1.000 1 2017 2017
dbSNP: rs541717889
rs541717889
6 43770888 missense variant G/C snv 2.1E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2001 2001
dbSNP: rs554561071
rs554561071
6 43777513 missense variant A/G snv 1.2E-05 3.5E-05
CUI: C1402294
Disease: Primary Lesion
Primary Lesion
0.010 1.000 1 2019 2019
dbSNP: rs735286
rs735286
6 43776884 non coding transcript exon variant C/T snv 0.23
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.010 1.000 1 2008 2008
dbSNP: rs749491856
rs749491856
1.000 6 43782071 missense variant A/C snv
CUI: C3160887
Disease: Node-positive breast cancer
Node-positive breast cancer
0.010 1.000 1 2010 2010
dbSNP: rs774265827
rs774265827
6 43780773 missense variant G/A;T snv 8.0E-06; 2.0E-05
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.010 1.000 1 2017 2017
dbSNP: rs1005230
rs1005230
0.827 0.040 6 43768759 upstream gene variant T/C snv 0.60
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.010 1.000 1 2018 2018
dbSNP: rs1005230
rs1005230
0.827 0.040 6 43768759 upstream gene variant T/C snv 0.60
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.010 1.000 1 2018 2018
dbSNP: rs1005230
rs1005230
0.827 0.040 6 43768759 upstream gene variant T/C snv 0.60
CUI: C0017638
Disease: Glioma
Glioma
0.010 1.000 1 2018 2018
dbSNP: rs1005230
rs1005230
0.827 0.040 6 43768759 upstream gene variant T/C snv 0.60
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 1.000 1 2018 2018
dbSNP: rs1005230
rs1005230
0.827 0.040 6 43768759 upstream gene variant T/C snv 0.60
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.010 1.000 1 2018 2018
dbSNP: rs1229919945
rs1229919945
1.000 0.040 6 43782041 missense variant T/C snv
CUI: C3805278
Disease: Extrahepatic Cholangiocarcinoma
Extrahepatic Cholangiocarcinoma
0.010 1.000 1 2013 2013
dbSNP: rs1284410244
rs1284410244
0.925 0.040 6 43778482 missense variant A/G snv 7.0E-06
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma
0.010 1.000 1 2004 2004
dbSNP: rs1284410244
rs1284410244
0.925 0.040 6 43778482 missense variant A/G snv 7.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 1.000 1 2004 2004
dbSNP: rs1284410244
rs1284410244
0.925 0.040 6 43778482 missense variant A/G snv 7.0E-06
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma
0.010 1.000 1 2004 2004
dbSNP: rs1284410244
rs1284410244
0.925 0.040 6 43778482 missense variant A/G snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2004 2004
dbSNP: rs138551969
rs138551969
1.000 0.040 6 43780749 missense variant A/G snv 1.2E-05 3.5E-05
Creatinine measurement, serum (procedure)
0.700 1.000 1 2018 2018