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: rs121912664
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C0796611
Disease: Newly Diagnosed Childhood Ependymoma
Newly Diagnosed Childhood Ependymoma 		0.010 1.000 1 2020 2020
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0796611
Disease: Newly Diagnosed Childhood Ependymoma
Newly Diagnosed Childhood Ependymoma 		0.010 1.000 1 2014 2014
dbSNP: rs1246637051
rs1246637051
RELA
0.851 0.040 11 65655714 missense variant C/T snv 7.0E-06
CUI: C0796611
Disease: Newly Diagnosed Childhood Ependymoma
Newly Diagnosed Childhood Ependymoma 		0.010 1.000 1 2020 2020