rs11615, ERCC1

N. diseases: 62
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Early infantile epileptic encephalopathy with suppression bursts
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
10 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2017 2017
progesterone receptor-negative breast cancer
CUI: C4733093
Disease: progesterone receptor-negative breast cancer
11 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2016 2016
Prostate Cancer, Hereditary, 7
CUI: C1853195
Disease: Prostate Cancer, Hereditary, 7
11 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2014 2014
Malignant mesothelioma
CUI: C0345967
Disease: Malignant mesothelioma
12 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2019 2019
progesterone receptor-positive breast cancer
CUI: C4733094
Disease: progesterone receptor-positive breast cancer
17 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2016 2016
Opitz GBBB Syndrome, X-Linked
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
24 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2017 2017
Xeroderma pigmentosum, group F
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
31 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.030 1.000 3 2013 2014
Malignant Childhood Neoplasm
CUI: C0278704
Disease: Malignant Childhood Neoplasm
34 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2017 2017
Sporadic Breast Carcinoma
CUI: C1336076
Disease: Sporadic Breast Carcinoma
46 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2015 2015
Malignant neoplasm of larynx
CUI: C0007107
Disease: Malignant neoplasm of larynx
50 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.030 1.000 3 2014 2015
Carcinoma of larynx
CUI: C0595989
Disease: Carcinoma of larynx
65 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.020 1.000 2 2014 2014
Central Nervous System Neoplasms
CUI: C0085136
Disease: Central Nervous System Neoplasms
72 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2017 2017
Adenocarcinoma Of Esophagus
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
81 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2012 2012
Hyperlipidemia
CUI: C0020473
Disease: Hyperlipidemia
83 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2017 2017
Anemia
CUI: C0002871
Disease: Anemia
94 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2015 2015
Triple-Negative Breast Carcinoma
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
96 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2018 2018
Neutropenia
CUI: C0027947
Disease: Neutropenia
97 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2020 2020
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
98 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2014 2014
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
98 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2014 2014
Triple Negative Breast Neoplasms
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
99 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2018 2018
Carcinoma
CUI: C0007097
Disease: Carcinoma
103 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2015 2015
Xeroderma Pigmentosum, Complementation Group D
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
111 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.020 1.000 2 2015 2016
Childhood Osteosarcoma
CUI: C1332986
Disease: Childhood Osteosarcoma
151 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.100 0.818 11 2012 2018
Osteosarcoma of bone
CUI: C0585442
Disease: Osteosarcoma of bone
151 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.100 0.818 11 2012 2018
Leukopenia
CUI: C0023530
Disease: Leukopenia
153 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2020 2020