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: rs11540654
rs11540654
0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.700 1.000 11 1997 2014
dbSNP: rs11540654
rs11540654
0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 9 1994 2014
dbSNP: rs11540654
rs11540654
0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 0
dbSNP: rs11540654
rs11540654
0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.010 1.000 1 2014 2014