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: rs11568607
rs11568607
ABCC3
17 50668426 splice region variant G/A snv 7.4E-03 2.6E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11568607
rs11568607
ABCC3
17 50668426 splice region variant G/A snv 7.4E-03 2.6E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11568607
rs11568607
ABCC3
17 50668426 splice region variant G/A snv 7.4E-03 2.6E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11568607
rs11568607
ABCC3
17 50668426 splice region variant G/A snv 7.4E-03 2.6E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17562516
rs17562516
ABCC3
17 50652420 intron variant T/A snv 0.21
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
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: 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: 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
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