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: rs11166389
rs11166389
SLC35A3 ; RNU6-1318P
2 1.000 0.040 1 100000723 non coding transcript exon variant G/A snv 0.15 0.700 1.000 1 2009 2009
dbSNP: rs12021720
rs12021720
DBT
3 0.925 0.160 1 100206504 missense variant T/A;C snv 0.92 0.700 1.000 1 2009 2009
dbSNP: rs11598018
rs11598018
STN1
2 1.000 0.040 10 103901557 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs3851634
rs3851634
POLR3B
4 0.882 0.040 12 106419124 intron variant T/C snv 0.22 0.700 1.000 1 2015 2015
dbSNP: rs10494090
rs10494090
SLC25A24
2 1.000 0.040 1 108150714 intron variant A/C;G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1805389
rs1805389
LIG4
4 0.882 0.080 13 108211261 missense variant G/A;C;T snv 5.7E-02; 4.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs11599775
rs11599775
VTI1A
2 1.000 0.040 10 112699938 intron variant G/A snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs648044
rs648044
ZBTB16 ; LOC101928875
4 0.882 0.040 11 114160077 non coding transcript exon variant A/G;T snv 0.700 1.000 2 2015 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2008 2008
dbSNP: rs498872
rs498872
PHLDB1
10 0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv 0.700 1.000 2 2009 2011
dbSNP: rs12803321
rs12803321
PHLDB1
2 1.000 0.040 11 118609400 intron variant G/C;T snv 0.700 1.000 2 2015 2017
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 2 2015 2017
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.800 1.000 5 2009 2014
dbSNP: rs2853676
rs2853676
TERT
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs891835
rs891835
CCDC26
5 0.851 0.120 8 129479506 intron variant T/G snv 0.17 0.700 1.000 1 2009 2009
dbSNP: rs55705857
rs55705857
CCDC26
16 0.732 0.080 8 129633446 intron variant A/G snv 3.9E-02 0.700 1.000 2 2015 2017
dbSNP: rs4295627
rs4295627
CCDC26
11 0.763 0.200 8 129673211 intron variant T/G snv 0.17 0.700 1.000 2 2009 2011
dbSNP: rs111696067
rs111696067
GOLGA3
2 1.000 0.040 12 132799954 intron variant T/C snv 5.3E-04 0.700 1.000 1 2015 2015
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.060 1.000 6 2014 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.060 1.000 6 2014 2019
dbSNP: rs1920116
rs1920116
LRRC31
5 0.882 0.040 3 169862183 intron variant G/A snv 0.25 0.800 1.000 1 2014 2014
dbSNP: rs4252707
rs4252707
MDM4
2 1.000 0.040 1 204539019 intron variant G/A snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs7572263
rs7572263
C2orf80
2 1.000 0.040 2 208186862 intron variant A/G snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs121913499
rs121913499
IDH1
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs12723208
rs12723208
TRAF5
2 1.000 0.040 1 211337552 intron variant A/G snv 0.13 0.700 1.000 1 2009 2009