Source: BEFREE

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: 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: 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: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.020 1.000 2 2005 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: 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: 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: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0238301
Disease: Cancer of Nasopharynx
Cancer 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
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		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: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.040 1.000 4 2002 2011
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		0.020 1.000 2 2007 2011
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.010 1.000 1 2011 2011
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0037284
Disease: Skin lesion
Skin lesion 		0.010 1.000 1 2011 2011
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.020 1.000 2 2012 2012
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 1.000 1 2012 2012
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2012 2012
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.010 1.000 1 2012 2012
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.010 1.000 1 2012 2012
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 1.000 1 2012 2012
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0029172
Disease: Oral Submucous Fibrosis
Oral Submucous Fibrosis 		0.010 1.000 1 2012 2012
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0025286
Disease: Meningioma
Meningioma 		0.010 1.000 1 2013 2013