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: rs886040738
rs886040738
BRCA2
0.851 13 32363188 frameshift variant G/- delins
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.010 1.000 1 2016 2016
dbSNP: rs886040738
rs886040738
BRCA2
0.851 13 32363188 frameshift variant G/- delins
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma 		0.010 1.000 1 2016 2016
dbSNP: rs886040738
rs886040738
BRCA2
0.851 13 32363188 frameshift variant G/- delins
CUI: C3898127
Disease: Non-Metastatic Childhood Soft Tissue Sarcoma
Non-Metastatic Childhood Soft Tissue Sarcoma 		0.010 1.000 1 2016 2016
dbSNP: rs886040738
rs886040738
BRCA2
0.851 13 32363188 frameshift variant G/- delins
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma 		0.010 1.000 1 2016 2016
dbSNP: rs886040738
rs886040738
BRCA2
0.851 13 32363188 frameshift variant G/- delins
CUI: C4551687
Disease: Sarcoma of soft tissue
Sarcoma of soft tissue 		0.010 1.000 1 2016 2016