Source: BEFREE ×
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: rs2279574
rs2279574
DUSP6
7 0.827 0.120 12 89351700 missense variant C/A;T snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2018 2018
dbSNP: rs736775
rs736775
TNIP1
1 5 151029787 downstream gene variant T/C snv 0.56 0.010 1.000 1 2018 2018
dbSNP: rs755683317
rs755683317
TPTE
3 21 10567746 missense variant G/A;C snv 2.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs765660823
rs765660823
DDR2
4 0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04 0.010 1.000 1 2018 2018
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
9 0.763 0.160 7 55181312 missense variant G/T snv 0.010 1.000 1 2017 2017
dbSNP: rs12203582
rs12203582
IL17F
7 0.827 0.120 6 52240759 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1347093
rs1347093
MIR217HG ; LOC105374690
4 0.882 0.080 2 56019205 intron variant G/T snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs1397529
rs1397529
GAB1
4 0.882 0.080 4 143471009 3 prime UTR variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs150423237
rs150423237
EGFR
1 7 55173087 missense variant G/A snv 2.1E-04 2.4E-04 0.010 1.000 1 2017 2017
dbSNP: rs1799724
rs1799724
LTA ; TNF
45 0.600 0.680 6 31574705 upstream gene variant C/T snv 8.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs1800372
rs1800372
TP53
15 0.752 0.240 17 7674892 synonymous variant T/A;C snv 1.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs1989969
rs1989969
VDR
8 0.827 0.120 12 47884227 intron variant A/C;G;T snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs2070803
rs2070803
TRIM46
3 0.925 0.080 1 155185239 intron variant G/A snv 0.55 0.010 1.000 1 2017 2017
dbSNP: rs2229090
rs2229090
XPC
6 0.827 0.160 3 14145845 3 prime UTR variant G/C snv 0.25 0.22 0.010 1.000 1 2017 2017
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs2294008
rs2294008
PSCA ; JRK
27 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.010 1.000 1 2017 2017
dbSNP: rs2564978
rs2564978
CD55
6 0.827 0.080 1 207321071 upstream gene variant T/C snv 0.77 0.010 1.000 1 2017 2017
dbSNP: rs2835267
rs2835267
SETD4 ; LOC100133286
6 0.827 0.080 21 36074727 intron variant T/C snv 0.63 0.010 < 0.001 1 2017 2017
dbSNP: rs3114020
rs3114020
ABCG2
2 0.882 0.200 4 88162514 intron variant T/C snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs3787728
rs3787728
CBR1 ; SETD4 ; LOC100133286
5 0.851 0.080 21 36071595 intron variant T/C snv 0.74 0.010 < 0.001 1 2017 2017
dbSNP: rs397517108
rs397517108
EGFR ; EGFR-AS1
9 0.790 0.120 7 55181312 missense variant GC/TT mnv 0.010 1.000 1 2017 2017
dbSNP: rs586339
rs586339
KDM4A
2 1.000 0.080 1 43671586 missense variant C/A;G;T snv 0.70 0.78 0.010 1.000 1 2017 2017
dbSNP: rs863225307
rs863225307
APC
1 5 112819077 stop gained C/T snv 0.010 1.000 1 2017 2017