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: rs149642280
rs149642280
KLC1 ; XRCC3
14 103699501 missense variant C/T snv 1.0E-04; 4.0E-06 3.5E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 < 0.001 2 2003 2006
dbSNP: rs149642280
rs149642280
KLC1 ; XRCC3
14 103699501 missense variant C/T snv 1.0E-04; 4.0E-06 3.5E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 < 0.001 2 2003 2006
dbSNP: rs3212121
rs3212121
KLC1 ; XRCC3
14 103698185 3 prime UTR variant T/C snv 1.9E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3212121
rs3212121
KLC1 ; XRCC3
14 103698185 3 prime UTR variant T/C snv 1.9E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs546983534
rs546983534
KLC1 ; XRCC3 ; LOC112268131
14 103708630 missense variant G/A snv 2.8E-05
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2015 2015
dbSNP: rs861536
rs861536
KLC1 ; XRCC3 ; LOC112268131
14 103701227 3 prime UTR variant A/G snv 0.28 0.30
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
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: rs3212112
rs3212112
KLC1 ; XRCC3
1.000 0.040 14 103699345 intron variant A/C snv 7.1E-03 2.2E-02
CUI: C0017638
Disease: Glioma
Glioma 		0.010 1.000 1 2015 2015
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: rs3212057
rs3212057
KLC1 ; XRCC3 ; LOC112268131
0.925 0.080 14 103707128 missense variant C/T snv 1.4E-03 6.3E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2016 2016
dbSNP: rs3212057
rs3212057
KLC1 ; XRCC3 ; LOC112268131
0.925 0.080 14 103707128 missense variant C/T snv 1.4E-03 6.3E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2016 2016
dbSNP: rs3212079
rs3212079
KLC1 ; XRCC3 ; LOC112268131
1.000 0.080 14 103704128 3 prime UTR variant G/A snv 5.2E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2010 2010
dbSNP: rs45603942
rs45603942
KLC1 ; XRCC3
0.925 0.080 14 103712895 5 prime UTR variant G/A snv 1.2E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2016 2016
dbSNP: rs45603942
rs45603942
KLC1 ; XRCC3
0.925 0.080 14 103712895 5 prime UTR variant G/A snv 1.2E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2016 2016
dbSNP: rs709399
rs709399
KLC1 ; XRCC3 ; LOC112268131
0.882 0.080 14 103701208 3 prime UTR variant G/A snv 0.59 0.61
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.010 1.000 1 2017 2017
dbSNP: rs709399
rs709399
KLC1 ; XRCC3 ; LOC112268131
0.882 0.080 14 103701208 3 prime UTR variant G/A snv 0.59 0.61
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.010 1.000 1 2017 2017
dbSNP: rs709399
rs709399
KLC1 ; XRCC3 ; LOC112268131
0.882 0.080 14 103701208 3 prime UTR variant G/A snv 0.59 0.61
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs768891111
rs768891111
KLC1 ; XRCC3
0.851 0.080 14 103699474 stop gained C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs768891111
rs768891111
KLC1 ; XRCC3
0.851 0.080 14 103699474 stop gained C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs768891111
rs768891111
KLC1 ; XRCC3
0.851 0.080 14 103699474 stop gained C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.010 1.000 1 2008 2008
dbSNP: rs768891111
rs768891111
KLC1 ; XRCC3
0.851 0.080 14 103699474 stop gained C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.010 1.000 1 2008 2008
dbSNP: rs77381814
rs77381814
KLC1 ; XRCC3
0.882 0.080 14 103699410 missense variant C/T snv 1.5E-03 5.9E-03
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2013 2013
dbSNP: rs77381814
rs77381814
KLC1 ; XRCC3
0.882 0.080 14 103699410 missense variant C/T snv 1.5E-03 5.9E-03
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 1.000 1 2013 2013
dbSNP: rs77381814
rs77381814
KLC1 ; XRCC3
0.882 0.080 14 103699410 missense variant C/T snv 1.5E-03 5.9E-03
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2013 2013