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: rs4149963
rs4149963
EXO1
7 0.851 0.120 1 241872080 missense variant C/T snv 0.11; 6.8E-05 7.6E-02 0.010 1.000 1 2005 2005
dbSNP: rs486907
rs486907
RNASEL
32 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 0.010 1.000 1 2005 2005
dbSNP: rs5780218
rs5780218
KISS1
4 0.882 0.080 1 204196482 5 prime UTR variant A/- delins 0.44 0.010 1.000 1 2015 2015
dbSNP: rs6691378
rs6691378
CHI3L1
6 0.882 0.160 1 203187994 upstream gene variant G/A snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs684559
rs684559
CHI3L2
1 1 111215824 intron variant G/A snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs7553007
rs7553007 		7 0.827 0.120 1 159728759 intergenic variant G/A snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs768827923
rs768827923
PIK3CD
6 0.851 0.080 1 9721816 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs772551056
rs772551056
SDHB
9 0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs9350
rs9350
EXO1
16 0.742 0.240 1 241885372 missense variant C/T snv 0.21 0.19 0.010 1.000 1 2005 2005
dbSNP: rs11902171
rs11902171
ITGAV
6 0.925 0.080 2 186678500 3 prime UTR variant G/C snv 0.22 0.020 1.000 2 2011 2012
dbSNP: rs763059810
rs763059810
CXCR4
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.020 1.000 2 2012 2016
dbSNP: rs1057519783
rs1057519783
ALK
10 0.851 0.080 2 29220747 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1156560901
rs1156560901
CDK15
2 2 201880120 missense variant A/G snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs13387042
rs13387042
LOC101928278 ; LOC105373874
16 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 0.010 1.000 1 2012 2012
dbSNP: rs13423759
rs13423759
ERBB4
3 0.925 0.080 2 211381247 3 prime UTR variant A/C snv 6.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs1418810723
rs1418810723
FN1
9 0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs2230774
rs2230774
ROCK2
12 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs2303428
rs2303428
MSH2
9 0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12 0.010 1.000 1 2018 2018
dbSNP: rs371074389
rs371074389
CXCR4 ; LOC112268426
16 0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs3834129
rs3834129
CASP8
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.010 1.000 1 2019 2019
dbSNP: rs4442975
rs4442975
LOC101928278
7 0.827 0.120 2 217056046 intergenic variant G/T snv 0.47 0.010 1.000 1 2016 2016
dbSNP: rs4671393
rs4671393
BCL11A
11 0.790 0.400 2 60493816 intron variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs523349
rs523349
SRD5A2
21 0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 0.010 1.000 1 2002 2002
dbSNP: rs7371084
rs7371084
LHCGR ; GTF2A1L ; STON1-GTF2A1L
3 0.925 0.120 2 48712814 intron variant T/C snv 0.12 0.010 1.000 1 2012 2012