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: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs78378222
rs78378222
TP53
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.700 1.000 1 2019 2019
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.800 1.000 2 2013 2019
dbSNP: rs10830963
rs10830963
MTNR1B
27 0.776 0.400 11 92975544 intron variant C/G snv 0.22 0.700 1.000 3 2016 2019
dbSNP: rs560887
rs560887
SPC25 ; G6PC2
18 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 0.700 1.000 1 2019 2019
dbSNP: rs3918226
rs3918226
NOS3
12 0.925 0.080 7 150993088 intron variant C/T snv 5.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs516246
rs516246
FUT2 ; LOC105447645
10 0.925 0.160 19 48702915 intron variant C/T snv 0.38 0.45 0.700 1.000 1 2019 2019
dbSNP: rs11708067
rs11708067
ADCY5
9 0.882 0.080 3 123346931 intron variant A/G snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs17367504
rs17367504
MTHFR
9 1.000 0.040 1 11802721 intron variant A/G snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs45446698
rs45446698
CYP3A7 ; ZSCAN25 ; CYP3A7-CYP3A51P
9 0.807 0.120 7 99735325 upstream gene variant T/G snv 2.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs900400
rs900400
LINC02029
7 0.925 0.080 3 157080986 upstream gene variant T/C snv 0.36 0.800 1.000 2 2010 2013
dbSNP: rs1042725
rs1042725
HMGA2
7 0.882 0.080 12 65964567 3 prime UTR variant C/T snv 0.48 0.800 1.000 1 2013 2013
dbSNP: rs10814916
rs10814916
GLIS3
7 0.851 0.200 9 4293150 intron variant A/C snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs2168101
rs2168101
LMO1 ; LOC105376536
7 0.827 0.200 11 8233861 intron variant C/A snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs3740360
rs3740360
PLCE1
7 0.827 0.240 10 94265734 intron variant A/C snv 9.7E-02 8.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs5742915
rs5742915
PML
7 0.925 0.080 15 74044292 missense variant T/C;G snv 0.35; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs8756
rs8756
HMGA2
7 0.882 0.200 12 65965972 3 prime UTR variant C/A snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs9366778
rs9366778
HLA-B ; LINC02571 ; LOC112267902
7 0.925 0.120 6 31301396 intron variant G/A snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs11082304
rs11082304
CABLES1
6 18 23141009 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2274224
rs2274224
PLCE1 ; PLCE1-AS1
6 0.882 0.080 10 94279840 missense variant G/A;C snv 8.8E-05; 0.44 0.700 1.000 1 2019 2019
dbSNP: rs72681869
rs72681869
SOS2
6 14 50188639 missense variant G/A;C snv 4.0E-06; 4.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs76895963
rs76895963
CCND2 ; CCND2-AS1
6 1.000 0.080 12 4275678 intron variant T/G snv 1.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs9379084
rs9379084
RREB1
6 0.882 0.160 6 7231610 missense variant G/A snv 0.11 8.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs10173538
rs10173538
BAZ2B ; MARCHF7
5 2 159712765 intron variant C/G;T snv 0.700 1.000 1 2019 2019