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: rs16901979
rs16901979
PCAT1 ; CASC19
17 0.724 0.480 8 127112671 intron variant C/A snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs2456449
rs2456449
PCAT1 ; CASC19
5 0.827 0.280 8 127180736 intron variant A/G snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs1948915
rs1948915
CCAT1 ; PCAT1 ; CASC19
1 1.000 0.160 8 127210176 intron variant T/C snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs2242652
rs2242652
TERT
16 0.724 0.400 5 1279913 intron variant G/A snv 0.18 0.020 1.000 2 2015 2019
dbSNP: rs2720680
rs2720680
PVT1
4 0.851 0.160 8 128102971 intron variant A/G snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs11715604
rs11715604
NCK1
4 0.851 0.160 3 136870707 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.070 0.857 7 2003 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.770 0.875 8 2003 2019
dbSNP: rs121913366
rs121913366
BRAF
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs397507483
rs397507483
BRAF
13 0.790 0.400 7 140753348 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913361
rs121913361
BRAF
7 0.807 0.280 7 140753349 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913338
rs121913338
BRAF
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs397516896
rs397516896
BRAF
11 0.763 0.360 7 140753355 missense variant C/G;T snv 0.710 1.000 2 2011 2016
dbSNP: rs1057519718
rs1057519718
BRAF
2 0.925 0.160 7 140753355 missense variant CA/TC mnv 0.010 1.000 1 2011 2011
dbSNP: rs121913370
rs121913370
BRAF
10 0.763 0.360 7 140753393 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs180177040
rs180177040
BRAF
9 0.790 0.360 7 140754187 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913357
rs121913357
BRAF
12 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913351
rs121913351
BRAF
9 0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs756168629
rs756168629
LRP1B
2 1.000 0.160 2 140841050 missense variant C/T snv 4.8E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs61070260
rs61070260
LRP1B
1 1.000 0.160 2 140846426 intron variant G/A snv 5.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs75002266
rs75002266
ORC4
6 0.827 0.160 2 147939241 missense variant G/A snv 3.2E-03 3.0E-03 0.010 1.000 1 2009 2009
dbSNP: rs12374648
rs12374648
LOC102723831
1 1.000 0.160 6 151208234 intron variant A/G snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs7781265
rs7781265
SMARCD3
1 1.000 0.160 7 151253854 intron variant G/A snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs34229995
rs34229995 		1 1.000 0.160 6 15243787 upstream gene variant C/G snv 2.1E-02 0.700 1.000 1 2016 2016