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: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation 		0.020 1.000 2 2011 2014
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation 		0.020 1.000 2 2011 2014
dbSNP: rs121912664
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation 		0.010 1.000 1 2019 2019
dbSNP: rs121912678
rs121912678
ACVR1
0.851 0.080 2 157774114 missense variant C/G;T snv
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation 		0.010 1.000 1 2019 2019
dbSNP: rs121913529
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation 		0.010 1.000 1 2008 2008
dbSNP: rs200298588
rs200298588
PDLIM5
1.000 0.040 4 94575722 missense variant G/A snv
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation 		0.010 1.000 1 2008 2008
dbSNP: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation 		0.010 1.000 1 2017 2017
dbSNP: rs367627018
rs367627018
NOS2
17 27787792 missense variant G/C snv 2.8E-05 2.1E-05
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation 		0.010 1.000 1 2015 2015