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: rs1555876140
rs1555876140
SMARCB1
1 22 23793671 frameshift variant -/C delins 0.700 0
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2008 2008
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: rs10924303
rs10924303
KIF26B ; LOC105373265
2 1.000 0.040 1 245683732 intron variant C/T snv 0.15 0.700 1.000 1 2009 2009
dbSNP: rs10924690
rs10924690
SMYD3
2 1.000 0.040 1 246320481 intron variant G/A snv 0.20 0.700 1.000 1 2009 2009
dbSNP: rs11163687
rs11163687
LOC107985037
2 1.000 0.040 1 83199436 intergenic variant A/G snv 9.6E-02 0.700 1.000 1 2009 2009
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: rs11583706
rs11583706
LOC105373220
2 1.000 0.040 1 238358337 intron variant G/T snv 0.17 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: rs12088062
rs12088062 		2 1.000 0.040 1 244811284 intergenic variant C/T snv 0.20 0.700 1.000 1 2009 2009
dbSNP: rs12125049
rs12125049
LINC02778 ; LOC105378761
2 1.000 0.040 1 60202030 intergenic variant C/T snv 0.12 0.700 1.000 1 2009 2009
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
dbSNP: rs1409785
rs1409785 		2 1.000 0.040 1 74782438 intergenic variant G/A snv 0.65 0.700 1.000 1 2009 2009
dbSNP: rs1412829
rs1412829
CDKN2B-AS1
14 0.742 0.400 9 22043927 intron variant A/G snv 0.28 0.800 1.000 1 2009 2009
dbSNP: rs16838813
rs16838813 		2 1.000 0.040 1 4364085 intergenic variant G/A;T snv 0.11 0.700 1.000 1 2009 2009
dbSNP: rs17110757
rs17110757
ACOT11
2 1.000 0.040 1 54584133 intron variant G/A snv 0.20 0.700 1.000 1 2009 2009
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: rs4809324
rs4809324
RTEL1 ; RTEL1-TNFRSF6B
7 0.807 0.200 20 63686867 non coding transcript exon variant T/C snv 8.8E-02 0.800 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: 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: 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: rs11979158
rs11979158
EGFR
5 0.882 0.040 7 55091656 intron variant A/G;T snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs2252586
rs2252586 		5 0.882 0.040 7 54911231 intergenic variant C/T snv 0.27 0.700 1.000 1 2011 2011
dbSNP: rs4977756
rs4977756
CDKN2B-AS1
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.700 1.000 2 2009 2012
dbSNP: rs63749993
rs63749993
MSH2
8 0.882 0.200 2 47476424 missense variant T/G snv 0.010 1.000 1 2012 2012