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: rs145929329
rs145929329
CDKN2B-AS1
3 0.882 0.040 9 22066213 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTTTTT delins 0.58 0.700 1.000 1 2015 2015
dbSNP: rs17296479
rs17296479 		5 0.851 0.040 5 81411157 non coding transcript exon variant T/A snv 9.4E-02 0.010 1.000 1 2012 2012
dbSNP: rs1801591
rs1801591
ETFA
4 0.882 0.040 15 76286421 missense variant G/A snv 7.4E-02 6.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs1957106
rs1957106
NFKBIA
4 0.851 0.040 14 35404564 synonymous variant G/A snv 0.28 0.25 0.010 1.000 1 2014 2014
dbSNP: rs200187877
rs200187877
PPARGC1A
4 0.851 0.040 4 23795829 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2017309
rs2017309
CHEK2
4 0.851 0.040 22 28735438 intron variant T/A snv 0.23 0.010 1.000 1 2006 2006
dbSNP: rs2033214
rs2033214
RBBP6
3 0.882 0.040 16 24566199 intron variant T/G snv 0.14 0.010 1.000 1 2014 2014
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: rs2235573
rs2235573
SLC16A8
4 0.882 0.040 22 38081923 synonymous variant G/A snv 0.47 0.46 0.700 1.000 1 2017 2017
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: 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: rs28357681
rs28357681
CYTB ; ND6
4 0.851 0.040 MT 14798 missense variant T/C snv 0.010 1.000 1 2019 2019
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: rs374052197
rs374052197
PDPN
5 0.882 0.040 1 13610421 missense variant G/A;T snv 8.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs374524467
rs374524467
PITX2
5 0.827 0.040 4 110632961 missense variant A/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs375391381
rs375391381
FRMD5
4 0.851 0.040 15 43883735 missense variant C/T snv 8.0E-06 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs3829382
rs3829382
FLT3
2 0.925 0.040 13 28003551 3 prime UTR variant G/T snv 0.46 0.010 1.000 1 2013 2013
dbSNP: rs3851634
rs3851634
POLR3B
4 0.882 0.040 12 106419124 intron variant T/C snv 0.22 0.710 1.000 1 2015 2015
dbSNP: rs572480837
rs572480837
POU5F1 ; TCF19
4 0.851 0.040 6 31165582 missense variant T/A snv 5.0E-04 8.4E-05 0.010 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: rs6062302
rs6062302
RTEL1 ; RTEL1-TNFRSF6B
4 0.882 0.040 20 63689615 synonymous variant T/C snv 0.74 0.81 0.700 1.000 1 2015 2015
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: 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: rs72709458
rs72709458
TERT
5 0.882 0.040 5 1283640 intron variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs7325927
rs7325927
FAM155A ; FAM155A-IT1
2 0.925 0.040 13 107823165 intron variant C/T snv 0.38 0.010 1.000 1 2010 2010