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: 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: 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: 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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2002 2002