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: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.030 1.000 3 2017 2019
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2008 2008
dbSNP: rs121912664
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2015 2015
dbSNP: rs35850753
rs35850753
TP53
0.807 0.080 17 7675353 5 prime UTR variant C/T snv 1.3E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs78378222
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs786203436
rs786203436
TP53
0.701 0.280 17 7675125 missense variant A/C;G;T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 < 0.001 1 2001 2001
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019