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: rs1275600
rs1275600
LOC105369844
2 1.000 0.040 12 75869771 intron variant T/A snv 0.47 0.700 1.000 1 2017 2017
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: 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: rs1801591
rs1801591
ETFA
4 0.882 0.040 15 76286421 missense variant G/A snv 7.4E-02 6.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs1920116
rs1920116
LRRC31
5 0.882 0.040 3 169862183 intron variant G/A snv 0.25 0.800 1.000 1 2014 2014
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: rs2236507
rs2236507
RTEL1 ; RTEL1-TNFRSF6B
2 1.000 0.040 20 63691653 intron variant G/C;T snv 0.700 1.000 1 2015 2015
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: 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: rs3751667
rs3751667
LMF1
4 1.000 0.040 16 954554 synonymous variant C/T snv 0.28 0.29 0.700 1.000 1 2017 2017
dbSNP: rs3851634
rs3851634
POLR3B
4 0.882 0.040 12 106419124 intron variant T/C snv 0.22 0.700 1.000 1 2015 2015
dbSNP: rs4252707
rs4252707
MDM4
2 1.000 0.040 1 204539019 intron variant G/A snv 0.17 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: rs7107785
rs7107785
MAML2
2 1.000 0.040 11 96014174 intron variant T/C snv 0.57 0.700 1.000 1 2017 2017
dbSNP: rs723527
rs723527
EGFR
4 0.882 0.040 7 55067179 intron variant A/G snv 0.53 0.700 1.000 1 2017 2017
dbSNP: rs7572263
rs7572263
C2orf80
2 1.000 0.040 2 208186862 intron variant A/G snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs77633900
rs77633900
ETFA
2 1.000 0.040 15 76246118 intron variant G/C snv 6.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs8079544
rs8079544
TP53
2 1.000 0.040 17 7676734 intron variant C/T snv 7.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs8753
rs8753
POLR2A
2 1.000 0.040 17 7514323 non coding transcript exon variant C/T snv 1.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs55705857
rs55705857
CCDC26
16 0.732 0.080 8 129633446 intron variant A/G snv 3.9E-02 0.700 1.000 2 2015 2017
dbSNP: rs1057519903
rs1057519903
H3-3A
28 0.683 0.080 1 226064434 missense variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1805389
rs1805389
LIG4
4 0.882 0.080 13 108211261 missense variant G/A;C;T snv 5.7E-02; 4.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs2297440
rs2297440
RTEL1 ; RTEL1-TNFRSF6B
10 0.763 0.080 20 63680946 intron variant T/C snv 0.81 0.700 1.000 1 2017 2017
dbSNP: rs35850753
rs35850753
TP53
8 0.807 0.080 17 7675353 5 prime UTR variant C/T snv 1.3E-02 0.700 1.000 1 2015 2015