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: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C3151417
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6 		0.800 0
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2004 2004
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0085695
Disease: Chronic gastritis
Chronic gastritis 		0.010 < 0.001 1 2005 2005
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0850639
Disease: premalignant lesion
premalignant lesion 		0.010 < 0.001 1 2005 2005
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.010 1.000 1 2005 2005
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: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.020 1.000 2 2005 2006
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
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.010 1.000 1 2006 2006
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: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2007 2007
dbSNP: rs745564626
rs745564626
KLC1 ; XRCC3
0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		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: 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: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0018932
Disease: Hematochezia
Hematochezia 		0.010 1.000 1 2008 2008
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.010 1.000 1 2009 2009
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: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0153392
Disease: Malignant neoplasm of nasopharynx
Malignant neoplasm of nasopharynx 		0.010 1.000 1 2010 2010
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 1.000 1 2010 2010