Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2019 2019
dbSNP: rs17065417
rs17065417
LIN28B
3 0.882 0.080 6 104958399 intron variant A/C snv 0.10 0.810 1.000 2 2012 2017
dbSNP: rs1057519697
rs1057519697
ALK
12 0.776 0.120 2 29220830 missense variant A/C snv 0.010 1.000 1 2011 2011
dbSNP: rs11587304
rs11587304 		1 1.000 0.040 1 143653074 upstream gene variant A/C snv 0.83 0.700 1.000 1 2009 2009
dbSNP: rs1362575880
rs1362575880
PSEN1
4 0.851 0.120 14 73192840 missense variant A/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1964986
rs1964986
PRSS1
1 1.000 0.040 7 142739784 upstream gene variant A/C snv 0.59 0.700 1.000 1 2009 2009
dbSNP: rs2213212
rs2213212 		1 1.000 0.040 7 142698925 downstream gene variant A/C snv 0.63 0.700 1.000 1 2009 2009
dbSNP: rs2293732
rs2293732
LOC105370401 ; LOC112267867
1 1.000 0.040 14 22473159 intron variant A/C snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs2736969
rs2736969 		1 1.000 0.040 7 38304355 upstream gene variant A/C snv 0.11 0.700 1.000 1 2009 2009
dbSNP: rs2736973
rs2736973 		1 1.000 0.040 7 38302014 upstream gene variant A/C snv 0.86 0.700 1.000 1 2009 2009
dbSNP: rs4796030
rs4796030
LIG3
6 0.827 0.120 17 35003131 3 prime UTR variant A/C snv 0.66 0.010 1.000 1 2019 2019
dbSNP: rs6953248
rs6953248 		1 1.000 0.040 7 38316814 downstream gene variant A/C snv 0.14 0.700 1.000 1 2009 2009
dbSNP: rs6966279
rs6966279 		1 1.000 0.040 7 38329947 upstream gene variant A/C snv 0.14 0.700 1.000 1 2009 2009
dbSNP: rs74315352
rs74315352
PARK7
6 0.807 0.080 1 7984930 missense variant A/C snv 1.4E-04 5.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs8020193
rs8020193
LOC105370401 ; LOC112267867
1 1.000 0.040 14 22470475 intron variant A/C snv 0.43 0.700 1.000 1 2009 2009
dbSNP: rs13034994
rs13034994
MYCNOS
3 0.882 0.080 2 15938513 non coding transcript exon variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs227867
rs227867
LOC105370401 ; LOC112267867
1 1.000 0.040 14 22484872 upstream gene variant A/C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs2734224
rs2734224 		1 1.000 0.040 7 142780878 upstream gene variant A/C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs34787247
rs34787247
LIN28A
4 0.851 0.200 1 26428582 3 prime UTR variant A/C;G snv 0.010 1.000 1 2020 2020
dbSNP: rs281864719
rs281864719
ALK
14 0.763 0.240 2 29220831 missense variant A/C;G;T snv 0.100 1.000 15 2008 2019
dbSNP: rs63750306
rs63750306
PSEN1
17 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.050 1.000 5 1998 2013
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs587781960
rs587781960
CHEK2
4 0.882 0.080 22 28689164 missense variant A/C;G;T snv 1.3E-05; 7.3E-05 0.010 1.000 1 2005 2005
dbSNP: rs786203436
rs786203436
TP53
20 0.701 0.280 17 7675125 missense variant A/C;G;T snv 0.010 < 0.001 1 2001 2001
dbSNP: rs2273267
rs2273267
NRAS ; CSDE1
4 0.882 0.080 1 114716848 upstream gene variant A/C;T snv 0.010 1.000 1 2020 2020