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: rs28934574
rs28934574
TP53
0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma 		0.700 0
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma 		0.100 0.958 24 2011 2020
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma 		0.100 0.958 24 2011 2020
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma 		0.020 1.000 2 2016 2018
dbSNP: rs397517132
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma 		0.020 1.000 2 2016 2019
dbSNP: rs121913343
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma 		0.010 1.000 1 2016 2016
dbSNP: rs150484080
rs150484080
ATRX
0.925 0.040 X 77684088 missense variant G/A snv 7.2E-05 6.6E-05
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma 		0.010 1.000 1 2016 2016
dbSNP: rs55819519
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma 		0.010 1.000 1 2016 2016