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: rs1204382931
rs1204382931
CYP1B1 ; CYP1B1-AS1
0.790 0.160 2 38075270 missense variant A/C snv 4.3E-06
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 1.000 1 2017 2017
dbSNP: rs1927914
rs1927914
TLR4
0.732 0.520 9 117702447 upstream gene variant G/A snv 0.52
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 1.000 1 2017 2017
dbSNP: rs1056892
rs1056892
CBR3 ; CBR3-AS1
0.882 0.160 21 36146408 missense variant G/A snv 0.37 0.39
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 1.000 1 2018 2018
dbSNP: rs9926344
rs9926344
WWOX
1.000 0.080 16 78986883 intron variant G/A;C;T snv
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 1.000 1 2018 2018
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 1.000 1 2019 2019
dbSNP: rs747489687
rs747489687
MCPH1
0.925 0.080 8 6444626 frameshift variant AAGAAATATTGCA/- delins 2.3E-04 1.0E-04
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 1.000 1 2019 2019
dbSNP: rs16949649
rs16949649
NME1 ; NME1-NME2
0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 1.000 1 2020 2020
dbSNP: rs2302254
rs2302254
NME1 ; NME1-NME2
0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 1.000 1 2020 2020