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: rs1215600806
rs1215600806
ALPL
4 0.851 0.120 1 21564100 missense variant T/C snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs1273593548
rs1273593548
PIK3CG
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs1416572796
rs1416572796
ALPL
4 0.851 0.120 1 21568170 missense variant G/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs143358506
rs143358506
ALPL
4 0.851 0.120 1 21560674 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs231755
rs231755 		3 0.882 0.040 2 203888846 regulatory region variant G/C snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs3217992
rs3217992
CDKN2B ; CDKN2B-AS1
22 0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs367597251
rs367597251
MDM2
10 0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04 0.010 1.000 1 2019 2019
dbSNP: rs4730222
rs4730222
HBP1
4 0.851 0.040 7 107169848 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs756673959
rs756673959
MDM2
3 0.882 0.040 12 68828867 stop lost T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs764191858
rs764191858
PDLIM3
3 0.882 0.040 4 185502359 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs770771727
rs770771727
UTRN
3 0.882 0.040 6 144751941 missense variant A/C;G snv 4.5E-05; 2.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs779591039
rs779591039
SLPI ; LOC105372630
3 0.882 0.040 20 45253712 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs12146774
rs12146774
LOC105370025
1 1.000 0.040 12 119235698 intron variant C/T snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs12879262
rs12879262
MIR4309
3 0.882 0.040 14 102539710 non coding transcript exon variant G/C snv 0.12 0.11 0.010 1.000 1 2018 2018
dbSNP: rs12894467
rs12894467
MIR300 ; MIR1185-1
6 0.807 0.080 14 101041390 non coding transcript exon variant C/T snv 0.51 0.50 0.010 1.000 1 2018 2018
dbSNP: rs1295925
rs1295925
VMP1
3 0.882 0.040 17 59832902 intron variant T/C snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs145204276
rs145204276
GAS5 ; ZBTB37 ; SNORD74 ; SNORD75 ; SNORD76 ; SNORD77 ; SNORA103
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs171140
rs171140
ERCC2
6 0.807 0.080 19 45361744 non coding transcript exon variant C/A snv 0.58 0.64 0.010 1.000 1 2018 2018
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
21 0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs3213245
rs3213245
XRCC1 ; PINLYP
13 0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60 0.010 1.000 1 2018 2018
dbSNP: rs3787547
rs3787547
BCAS1
3 0.882 0.040 20 54067899 intron variant G/A snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs3821204
rs3821204
IL18R1 ; IL1RL1
6 0.807 0.160 2 102343821 3 prime UTR variant C/G snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs55933544
rs55933544
GLDC
1 1.000 0.040 9 6534080 missense variant C/T snv 0.21 0.700 1.000 1 2018 2018