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: rs2234248
rs2234248
TREM2 ; LOC105375056
5 0.827 0.040 6 41163980 upstream gene variant A/G snv 2.2E-03 0.010 1.000 1 2015 2015
dbSNP: rs2440472
rs2440472
AMFR
5 0.827 0.080 16 56402912 intron variant A/G snv 0.61 0.010 1.000 1 2018 2018
dbSNP: rs2853669
rs2853669
TERT
35 0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs2904551
rs2904551
PRODH
8 0.776 0.160 22 18918421 missense variant A/G snv 5.2E-03 2.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs6470745
rs6470745
CCDC26
3 0.882 0.040 8 129629675 intron variant A/G snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs6971
rs6971
TSPO
11 0.742 0.200 22 43162920 missense variant A/G snv 0.76 0.75 0.010 1.000 1 2017 2017
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 < 0.001 2 2005 2020
dbSNP: rs498872
rs498872
PHLDB1
10 0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv 0.020 1.000 2 2011 2015
dbSNP: rs11979158
rs11979158
EGFR
5 0.882 0.040 7 55091656 intron variant A/G;T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs2291427
rs2291427
ALOX5
2 0.925 0.040 10 45440776 intron variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs562015640
rs562015640
PTEN
16 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs648044
rs648044
ZBTB16 ; LOC101928875
4 0.882 0.040 11 114160077 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs77724903
rs77724903
RET
23 0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 0.010 1.000 1 2011 2011
dbSNP: rs1057519903
rs1057519903
H3-3A
28 0.683 0.080 1 226064434 missense variant A/T snv 0.050 1.000 5 2013 2017
dbSNP: rs11196067
rs11196067
VTI1A
10 0.752 0.160 10 112709306 intron variant A/T snv 0.32 0.010 1.000 1 2015 2015
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 < 0.001 1 2016 2016
dbSNP: rs2562152
rs2562152
RHBDF1
4 0.882 0.040 16 73898 intron variant A/T snv 0.67 0.700 1.000 1 2017 2017
dbSNP: rs59060240
rs59060240
EGFR
4 0.882 0.040 7 55080369 intron variant AA/-;A;AAA;AAAA;AAAAAAAAAAA delins 0.700 1.000 1 2015 2015
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.020 1.000 2 2011 2015
dbSNP: rs3092993
rs3092993
ATM ; C11orf65
5 0.827 0.040 11 108364388 intron variant C/A snv 0.11 0.010 1.000 1 2007 2007
dbSNP: rs7003908
rs7003908
PRKDC
16 0.716 0.320 8 47858141 intron variant C/A snv 0.66 0.010 1.000 1 2009 2009
dbSNP: rs753152604
rs753152604
CDK4
7 0.827 0.040 12 57751680 missense variant C/A snv 0.010 1.000 1 2017 2017
dbSNP: rs11515
rs11515
CDKN2A ; CDKN2A-DT
6 0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88 0.010 1.000 1 2011 2011
dbSNP: rs4644
rs4644
LGALS3
14 0.732 0.320 14 55138217 missense variant C/A;G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.100 0.969 32 2009 2020