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: 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: 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: rs861531
rs861531
KLC1 ; XRCC3 ; LOC112268131
0.882 0.120 14 103706470 3 prime UTR variant C/A snv 0.32
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 1.000 1 2016 2016
dbSNP: rs861531
rs861531
KLC1 ; XRCC3 ; LOC112268131
0.882 0.120 14 103706470 3 prime UTR variant C/A snv 0.32
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2016 2016
dbSNP: rs861531
rs861531
KLC1 ; XRCC3 ; LOC112268131
0.882 0.120 14 103706470 3 prime UTR variant C/A snv 0.32
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2016 2016
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: 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
dbSNP: rs28903081
rs28903081
KLC1 ; XRCC3
0.851 0.200 14 103698934 missense variant C/A;T snv 4.5E-06; 4.3E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2016 2016
dbSNP: rs28903081
rs28903081
KLC1 ; XRCC3
0.851 0.200 14 103698934 missense variant C/A;T snv 4.5E-06; 4.3E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2016 2016
dbSNP: rs28903081
rs28903081
KLC1 ; XRCC3
0.851 0.200 14 103698934 missense variant C/A;T snv 4.5E-06; 4.3E-04
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2014 2014
dbSNP: rs28903081
rs28903081
KLC1 ; XRCC3
0.851 0.200 14 103698934 missense variant C/A;T snv 4.5E-06; 4.3E-04
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs745564626
rs745564626
KLC1 ; XRCC3
0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2013 2013
dbSNP: rs745564626
rs745564626
KLC1 ; XRCC3
0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs745564626
rs745564626
KLC1 ; XRCC3
0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs745564626
rs745564626
KLC1 ; XRCC3
0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05
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: rs745564626
rs745564626
KLC1 ; XRCC3
0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2013 2013
dbSNP: rs745564626
rs745564626
KLC1 ; XRCC3
0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2004 2004
dbSNP: rs745564626
rs745564626
KLC1 ; XRCC3
0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2016 2016
dbSNP: rs745564626
rs745564626
KLC1 ; XRCC3
0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		0.010 1.000 1 2016 2016
dbSNP: rs745564626
rs745564626
KLC1 ; XRCC3
0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2013 2013
dbSNP: rs745564626
rs745564626
KLC1 ; XRCC3
0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs745564626
rs745564626
KLC1 ; XRCC3
0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2006 2006