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: rs1178552124
rs1178552124
KLC1 ; XRCC3 ; LOC112268131
1.000 0.040 14 103703253 synonymous variant G/A snv
CUI: C0029172
Disease: Oral Submucous Fibrosis
Oral Submucous Fibrosis 		0.010 1.000 1 2012 2012
dbSNP: rs1297812518
rs1297812518
KLC1 ; XRCC3 ; LOC112268131
0.763 0.160 14 103707168 missense variant G/A snv 1.3E-05 1.4E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 < 0.001 1 2013 2013
dbSNP: rs1297812518
rs1297812518
KLC1 ; XRCC3 ; LOC112268131
0.763 0.160 14 103707168 missense variant G/A snv 1.3E-05 1.4E-05
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.010 < 0.001 1 2014 2014
dbSNP: rs1297812518
rs1297812518
KLC1 ; XRCC3 ; LOC112268131
0.763 0.160 14 103707168 missense variant G/A snv 1.3E-05 1.4E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 < 0.001 1 2013 2013
dbSNP: rs1297812518
rs1297812518
KLC1 ; XRCC3 ; LOC112268131
0.763 0.160 14 103707168 missense variant G/A snv 1.3E-05 1.4E-05
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.010 < 0.001 1 2014 2014
dbSNP: rs1297812518
rs1297812518
KLC1 ; XRCC3 ; LOC112268131
0.763 0.160 14 103707168 missense variant G/A snv 1.3E-05 1.4E-05
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		0.010 1.000 1 2012 2012
dbSNP: rs1297812518
rs1297812518
KLC1 ; XRCC3 ; LOC112268131
0.763 0.160 14 103707168 missense variant G/A snv 1.3E-05 1.4E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs1297812518
rs1297812518
KLC1 ; XRCC3 ; LOC112268131
0.763 0.160 14 103707168 missense variant G/A snv 1.3E-05 1.4E-05
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs1297812518
rs1297812518
KLC1 ; XRCC3 ; LOC112268131
0.763 0.160 14 103707168 missense variant G/A snv 1.3E-05 1.4E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 < 0.001 1 2013 2013
dbSNP: rs1297812518
rs1297812518
KLC1 ; XRCC3 ; LOC112268131
0.763 0.160 14 103707168 missense variant G/A snv 1.3E-05 1.4E-05
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.010 < 0.001 1 2014 2014
dbSNP: rs1360602468
rs1360602468
KLC1 ; XRCC3
0.925 0.080 14 103698904 missense variant G/C;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 1.000 1 2011 2011
dbSNP: rs1360602468
rs1360602468
KLC1 ; XRCC3
0.925 0.080 14 103698904 missense variant G/C;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1799794
rs1799794
KLC1 ; XRCC3
0.763 0.320 14 103712930 splice region variant T/C snv 0.22
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 1.000 1 2016 2016
dbSNP: rs1799794
rs1799794
KLC1 ; XRCC3
0.763 0.320 14 103712930 splice region variant T/C snv 0.22
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1799794
rs1799794
KLC1 ; XRCC3
0.763 0.320 14 103712930 splice region variant T/C snv 0.22
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		0.010 1.000 1 2014 2014
dbSNP: rs1799794
rs1799794
KLC1 ; XRCC3
0.763 0.320 14 103712930 splice region variant T/C snv 0.22
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2016 2016
dbSNP: rs1799794
rs1799794
KLC1 ; XRCC3
0.763 0.320 14 103712930 splice region variant T/C snv 0.22
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.010 1.000 1 2015 2015
dbSNP: rs1799794
rs1799794
KLC1 ; XRCC3
0.763 0.320 14 103712930 splice region variant T/C snv 0.22
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor 		0.010 1.000 1 2015 2015
dbSNP: rs1799794
rs1799794
KLC1 ; XRCC3
0.763 0.320 14 103712930 splice region variant T/C snv 0.22
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2016 2016
dbSNP: rs1799796
rs1799796
KLC1 ; XRCC3
0.790 0.240 14 103699590 intron variant T/A;C snv 0.31
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 1.000 1 2012 2012
dbSNP: rs1799796
rs1799796
KLC1 ; XRCC3
0.790 0.240 14 103699590 intron variant T/A;C snv 0.31
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1799796
rs1799796
KLC1 ; XRCC3
0.790 0.240 14 103699590 intron variant T/A;C snv 0.31
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 < 0.001 1 2018 2018
dbSNP: rs1799796
rs1799796
KLC1 ; XRCC3
0.790 0.240 14 103699590 intron variant T/A;C snv 0.31
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2012 2012
dbSNP: rs1799796
rs1799796
KLC1 ; XRCC3
0.790 0.240 14 103699590 intron variant T/A;C snv 0.31
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2019 2019
dbSNP: rs28903081
rs28903081
KLC1 ; XRCC3
0.851 0.200 14 103698934 missense variant C/A;T snv 4.5E-06; 4.3E-04
CUI: C0004096
Disease: Asthma
Asthma 		0.010 1.000 1 2018 2018