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: rs587780072
rs587780072
TP53
0.882 0.240 17 7674927 missense variant G/A;C snv 2.8E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.010 1.000 1 2012 2012
dbSNP: rs587780072
rs587780072
TP53
0.882 0.240 17 7674927 missense variant G/A;C snv 2.8E-05
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.010 1.000 1 2012 2012
dbSNP: rs587780072
rs587780072
TP53
0.882 0.240 17 7674927 missense variant G/A;C snv 2.8E-05
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.010 1.000 1 2012 2012