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: rs4253197
rs4253197
ERCC6
10 49473111 intron variant A/G snv 3.4E-02
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		0.700 1.000 1 2018 2018
dbSNP: rs2228526
rs2228526
ERCC6
0.752 0.200 10 49470671 missense variant T/C snv 0.22 0.19
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 0.500 2 2007 2017
dbSNP: rs2228526
rs2228526
ERCC6
0.752 0.200 10 49470671 missense variant T/C snv 0.22 0.19
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 1.000 2 2013 2014
dbSNP: rs2228526
rs2228526
ERCC6
0.752 0.200 10 49470671 missense variant T/C snv 0.22 0.19
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.020 0.500 2 2007 2017
dbSNP: rs2228526
rs2228526
ERCC6
0.752 0.200 10 49470671 missense variant T/C snv 0.22 0.19
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.020 0.500 2 2007 2017
dbSNP: rs2228526
rs2228526
ERCC6
0.752 0.200 10 49470671 missense variant T/C snv 0.22 0.19
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 1.000 2 2013 2014
dbSNP: rs2228526
rs2228526
ERCC6
0.752 0.200 10 49470671 missense variant T/C snv 0.22 0.19
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2008 2008
dbSNP: rs2228526
rs2228526
ERCC6
0.752 0.200 10 49470671 missense variant T/C snv 0.22 0.19
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2019 2019
dbSNP: rs2228526
rs2228526
ERCC6
0.752 0.200 10 49470671 missense variant T/C snv 0.22 0.19
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2009 2009
dbSNP: rs2228526
rs2228526
ERCC6
0.752 0.200 10 49470671 missense variant T/C snv 0.22 0.19
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs2228526
rs2228526
ERCC6
0.752 0.200 10 49470671 missense variant T/C snv 0.22 0.19
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2013 2013
dbSNP: rs2228526
rs2228526
ERCC6
0.752 0.200 10 49470671 missense variant T/C snv 0.22 0.19
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2009 2009
dbSNP: rs2228526
rs2228526
ERCC6
0.752 0.200 10 49470671 missense variant T/C snv 0.22 0.19
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs2228526
rs2228526
ERCC6
0.752 0.200 10 49470671 missense variant T/C snv 0.22 0.19
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2009 2009
dbSNP: rs376526037
rs376526037
ERCC6
0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 1992 2016
dbSNP: rs376526037
rs376526037
ERCC6
0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.700 1.000 1 2017 2017
dbSNP: rs376526037
rs376526037
ERCC6
0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.700 0
dbSNP: rs376526037
rs376526037
ERCC6
0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1 		0.700 0
dbSNP: rs376526037
rs376526037
ERCC6
0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.700 0
dbSNP: rs376526037
rs376526037
ERCC6
0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs376526037
rs376526037
ERCC6
0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05
CUI: C3151063
Disease: MACULAR DEGENERATION, AGE-RELATED, 5
MACULAR DEGENERATION, AGE-RELATED, 5 		0.700 0
dbSNP: rs376526037
rs376526037
ERCC6
0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05
CUI: C4310783
Disease: PREMATURE OVARIAN FAILURE 11
PREMATURE OVARIAN FAILURE 11 		0.700 0
dbSNP: rs121917902
rs121917902
ERCC6 ; PGBD3
0.790 0.440 10 49524073 stop gained G/A snv
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.700 1.000 3 2008 2011
dbSNP: rs121917902
rs121917902
ERCC6 ; PGBD3
0.790 0.440 10 49524073 stop gained G/A snv
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.700 1.000 3 2008 2011
dbSNP: rs121917902
rs121917902
ERCC6 ; PGBD3
0.790 0.440 10 49524073 stop gained G/A snv
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.700 1.000 3 2008 2011