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: rs58064122
rs58064122
GFAP
3 0.882 0.160 17 44913334 missense variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs6089953
rs6089953
RTEL1 ; RTEL1-TNFRSF6B
3 0.882 0.080 20 63659655 intron variant A/G snv 0.82 0.010 1.000 1 2015 2015
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2010 2010
dbSNP: rs7115578
rs7115578
MAML2
3 0.882 0.040 11 96266936 intron variant G/A snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs71305152
rs71305152
ZFPM2
5 0.882 0.040 8 105437494 intron variant -/TTTTCT delins 0.43 0.010 1.000 1 2015 2015
dbSNP: rs766727892
rs766727892
TCF7L2
3 0.925 0.040 10 113151107 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs773442580
rs773442580
EGF
7 0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2012 2012
dbSNP: rs866419664
rs866419664
TP53
5 0.882 0.040 17 7673821 frameshift variant -/TCCCA delins 0.010 1.000 1 2002 2002
dbSNP: rs867657798
rs867657798
TCF4
3 0.925 0.040 18 55631366 missense variant G/A;C snv 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs868162712
rs868162712
TCF4
3 0.925 0.040 18 55279598 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs9288516
rs9288516
XRCC5
6 0.827 0.120 2 216188541 intron variant T/A snv 5.0E-02 0.010 1.000 1 2016 2016