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: rs10492396
rs10492396
BRCA2
0.925 0.080 13 32384750 non coding transcript exon variant G/A snv 4.8E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs10492396
rs10492396
BRCA2
0.925 0.080 13 32384750 non coding transcript exon variant G/A snv 4.8E-02
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs1057520247
rs1057520247
BRCA2
0.882 0.200 13 32326591 synonymous variant C/T snv 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2002 2002
dbSNP: rs1057520247
rs1057520247
BRCA2
0.882 0.200 13 32326591 synonymous variant C/T snv 7.0E-06
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.010 1.000 1 2002 2002
dbSNP: rs1057520247
rs1057520247
BRCA2
0.882 0.200 13 32326591 synonymous variant C/T snv 7.0E-06
CUI: C0015702
Disease: Favism
Favism 		0.010 1.000 1 2002 2002
dbSNP: rs1057520247
rs1057520247
BRCA2
0.882 0.200 13 32326591 synonymous variant C/T snv 7.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2002 2002
dbSNP: rs1057520247
rs1057520247
BRCA2
0.882 0.200 13 32326591 synonymous variant C/T snv 7.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2002 2002
dbSNP: rs1057520611
rs1057520611
BRCA2
0.925 0.080 13 32356462 missense variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2006 2006
dbSNP: rs1057520611
rs1057520611
BRCA2
0.925 0.080 13 32356462 missense variant A/G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs1060502495
rs1060502495
BRCA2
13 32332560 missense variant A/G snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2012 2012
dbSNP: rs1060502495
rs1060502495
BRCA2
13 32332560 missense variant A/G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2012 2012
dbSNP: rs1135401891
rs1135401891
BRCA2
0.790 0.280 13 32332796 frameshift variant -/CT ins
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2018 2018
dbSNP: rs1135401891
rs1135401891
BRCA2
0.790 0.280 13 32332796 frameshift variant -/CT ins
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency 		0.010 1.000 1 2018 2018
dbSNP: rs1135401891
rs1135401891
BRCA2
0.790 0.280 13 32332796 frameshift variant -/CT ins
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs1135401891
rs1135401891
BRCA2
0.790 0.280 13 32332796 frameshift variant -/CT ins
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs1135401891
rs1135401891
BRCA2
0.790 0.280 13 32332796 frameshift variant -/CT ins
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2018 2018
dbSNP: rs1135401891
rs1135401891
BRCA2
0.790 0.280 13 32332796 frameshift variant -/CT ins
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs11571658
rs11571658
BRCA2
0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs11571707
rs11571707
BRCA2
0.851 0.200 13 32356461 missense variant T/C snv 1.9E-02 8.5E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 < 0.001 1 2010 2010
dbSNP: rs11571707
rs11571707
BRCA2
0.851 0.200 13 32356461 missense variant T/C snv 1.9E-02 8.5E-03
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.010 < 0.001 1 2010 2010
dbSNP: rs11571707
rs11571707
BRCA2
0.851 0.200 13 32356461 missense variant T/C snv 1.9E-02 8.5E-03
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.010 < 0.001 1 2010 2010
dbSNP: rs11571707
rs11571707
BRCA2
0.851 0.200 13 32356461 missense variant T/C snv 1.9E-02 8.5E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 < 0.001 1 2010 2010
dbSNP: rs11571707
rs11571707
BRCA2
0.851 0.200 13 32356461 missense variant T/C snv 1.9E-02 8.5E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2010 2010
dbSNP: rs11571707
rs11571707
BRCA2
0.851 0.200 13 32356461 missense variant T/C snv 1.9E-02 8.5E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2010 2010
dbSNP: rs11571707
rs11571707
BRCA2
0.851 0.200 13 32356461 missense variant T/C snv 1.9E-02 8.5E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2010 2010