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: rs4148416
rs4148416
ABCC3
0.882 0.040 17 50676062 synonymous variant C/T snv 8.7E-02 0.10
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.020 1.000 2 2014 2015
dbSNP: rs4148416
rs4148416
ABCC3
0.882 0.040 17 50676062 synonymous variant C/T snv 8.7E-02 0.10
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 1.000 2 2014 2015
dbSNP: rs4148416
rs4148416
ABCC3
0.882 0.040 17 50676062 synonymous variant C/T snv 8.7E-02 0.10
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.020 1.000 2 2014 2015
dbSNP: rs11568591
rs11568591
ABCC3
0.925 0.080 17 50683692 missense variant G/A snv 3.7E-02 3.9E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2008 2008
dbSNP: rs11568591
rs11568591
ABCC3
0.925 0.080 17 50683692 missense variant G/A snv 3.7E-02 3.9E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2008 2008