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: rs1799794
rs1799794
KLC1 ; XRCC3
0.763 0.320 14 103712930 splice region variant T/C snv 0.22
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 0.667 6 2011 2017
dbSNP: rs1799794
rs1799794
KLC1 ; XRCC3
0.763 0.320 14 103712930 splice region variant T/C snv 0.22
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 0.667 6 2011 2017
dbSNP: rs1799794
rs1799794
KLC1 ; XRCC3
0.763 0.320 14 103712930 splice region variant T/C snv 0.22
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 0.500 2 2015 2016
dbSNP: rs1799794
rs1799794
KLC1 ; XRCC3
0.763 0.320 14 103712930 splice region variant T/C snv 0.22
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 1.000 2 2013 2014
dbSNP: rs1799794
rs1799794
KLC1 ; XRCC3
0.763 0.320 14 103712930 splice region variant T/C snv 0.22
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 0.500 2 2015 2016
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: 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: 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: 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: 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: rs861528
rs861528
XRCC3 ; ZFYVE21
0.925 0.080 14 103716661 intron variant C/T snv 0.17
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs861528
rs861528
XRCC3 ; ZFYVE21
0.925 0.080 14 103716661 intron variant C/T snv 0.17
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2017 2017
dbSNP: rs861529
rs861529
KLC1 ; XRCC3
0.925 0.080 14 103712977 3 prime UTR variant T/C snv 0.91
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2007 2007
dbSNP: rs861529
rs861529
KLC1 ; XRCC3
0.925 0.080 14 103712977 3 prime UTR variant T/C snv 0.91
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs861530
rs861530
KLC1 ; XRCC3 ; LOC112268131
0.732 0.320 14 103707786 3 prime UTR variant T/C snv 0.65
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 1.000 1 2016 2016