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: rs1554794342
rs1554794342
ERCC6
1.000 10 49530769 frameshift variant CTGCTGG/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 1992 2016
dbSNP: rs1554794342
rs1554794342
ERCC6
1.000 10 49530769 frameshift variant CTGCTGG/- del
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 7 1992 2016
dbSNP: rs185142838
rs185142838
ERCC6
0.851 0.400 10 49461473 stop gained G/A snv 1.4E-04 9.1E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 7 1992 2016
dbSNP: rs185142838
rs185142838
ERCC6
0.851 0.400 10 49461473 stop gained G/A snv 1.4E-04 9.1E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 1992 2016
dbSNP: rs202080674
rs202080674
ERCC6
0.851 0.160 10 49482848 missense variant G/A snv 8.0E-06
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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 1992 2016
dbSNP: rs1554788393
rs1554788393
ERCC6
0.882 0.240 10 49482818 missense variant T/C snv
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.700 1.000 5 1998 2017
dbSNP: rs202080674
rs202080674
ERCC6
0.851 0.160 10 49482848 missense variant G/A snv 8.0E-06
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 1.000 5 1998 2017
dbSNP: rs368728467
rs368728467
ERCC6
1.000 0.160 10 49474074 missense variant A/G;T snv
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 1.000 5 1998 2017
dbSNP: rs751292948
rs751292948
ERCC6
1.000 0.160 10 49482798 stop gained C/G;T snv 4.0E-06
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.800 1.000 5 1998 2017
dbSNP: rs151242354
rs151242354
ERCC6
0.925 0.400 10 49482689 stop gained G/A snv 6.4E-05 9.1E-05
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.700 1.000 3 2010 2016
dbSNP: rs121917904
rs121917904
ERCC6
0.925 0.400 10 49482809 stop gained G/A snv 2.4E-05 3.5E-05
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.700 1.000 2 2008 2016
dbSNP: rs185142838
rs185142838
ERCC6
0.851 0.400 10 49461473 stop gained G/A snv 1.4E-04 9.1E-05
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.700 1.000 2 2010 2016
dbSNP: rs185142838
rs185142838
ERCC6
0.851 0.400 10 49461473 stop gained G/A snv 1.4E-04 9.1E-05
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		0.700 1.000 2 2010 2016
dbSNP: rs185142838
rs185142838
ERCC6
0.851 0.400 10 49461473 stop gained G/A snv 1.4E-04 9.1E-05
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.700 1.000 2 2010 2016
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: rs2228527
rs2228527
ERCC6
0.925 0.080 10 49470323 missense variant T/C snv 0.22 0.20
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.020 1.000 2 2012 2017
dbSNP: rs2228529
rs2228529
ERCC6
0.925 0.080 10 49459059 missense variant T/C snv 0.22 0.19
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.020 1.000 2 2012 2017
dbSNP: rs373227647
rs373227647
ERCC6
0.790 0.440 10 49472472 splice acceptor variant T/C snv 8.0E-06 7.0E-06
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		0.700 1.000 2 2010 2013
dbSNP: rs3793784
rs3793784
ERCC6
0.827 0.120 10 49539493 5 prime UTR variant G/C snv 0.30
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.020 1.000 2 2010 2019
dbSNP: rs875989810
rs875989810
ERCC6
0.851 0.400 10 49528426 stop gained C/A snv
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.700 1.000 2 2015 2017