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: rs11552449
rs11552449
AP4B1 ; DCLRE1B
0.925 0.080 1 113905767 missense variant C/G;T snv 0.22 0.15
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.710 1.000 1 2013 2018
dbSNP: rs11552449
rs11552449
AP4B1 ; DCLRE1B
0.925 0.080 1 113905767 missense variant C/G;T snv 0.22 0.15
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2013 2018
dbSNP: rs11552449
rs11552449
AP4B1 ; DCLRE1B
0.925 0.080 1 113905767 missense variant C/G;T snv 0.22 0.15
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs11552449
rs11552449
AP4B1 ; DCLRE1B
0.925 0.080 1 113905767 missense variant C/G;T snv 0.22 0.15
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2018 2018