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: rs735890
rs735890
WNT5B
1 1.000 0.080 12 1645258 intron variant A/G snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs9825174
rs9825174
XXYLT1
2 0.925 0.120 3 195118855 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3736228
rs3736228
LRP5
13 0.752 0.400 11 68433827 missense variant C/T snv 0.13 0.11 0.090 1.000 9 2005 2017
dbSNP: rs2278729
rs2278729
TBC1D8
1 1.000 0.080 2 101052395 intron variant G/A snv 0.25 0.810 1.000 2 2010 2017
dbSNP: rs3134070
rs3134070
TNFRSF11B ; COLEC10
3 0.882 0.200 8 118952785 upstream gene variant C/T snv 9.6E-02 0.020 1.000 2 2015 2017
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.020 1.000 2 2012 2017
dbSNP: rs11556218
rs11556218
IL16
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.010 1.000 1 2017 2017
dbSNP: rs1718119
rs1718119
P2RX7 ; LOC105370032
21 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs2230911
rs2230911
P2RX7 ; LOC105370032
6 0.807 0.360 12 121177328 missense variant C/G snv 0.14 0.12 0.010 < 0.001 1 2017 2017
dbSNP: rs2393799
rs2393799
P2RX7 ; LOC105370032
3 0.882 0.200 12 121132209 upstream gene variant C/A;T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs2566752
rs2566752
WLS ; GNG12-AS1
2 1.000 0.080 1 68191014 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs308442
rs308442
FGF2
1 1.000 0.080 4 122853758 intron variant T/A snv 0.46 0.010 1.000 1 2017 2017
dbSNP: rs3102734
rs3102734
TNFRSF11B ; COLEC10
3 0.925 0.080 8 118951777 intron variant G/A snv 7.3E-02 9.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs4988235
rs4988235
MCM6
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs7958311
rs7958311
P2RX7 ; LOC105370032
5 0.851 0.160 12 121167552 missense variant G/A;C snv 0.25; 4.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs2073617
rs2073617
TNFRSF11B ; COLEC10
9 0.776 0.360 8 118952044 upstream gene variant G/A snv 0.58 0.020 1.000 2 2015 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2016 2016
dbSNP: rs11872467
rs11872467
RAB31
1 1.000 0.080 18 9848005 intron variant G/A snv 3.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs12775980
rs12775980
SVIL
1 1.000 0.080 10 29570927 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1751492
rs1751492
LEPR
1 1.000 0.080 1 65526942 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1800247
rs1800247
BGLAP ; PMF1-BGLAP
4 0.882 0.200 1 156242034 intron variant T/C snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs1805096
rs1805096
LEPR
6 0.827 0.200 1 65636574 synonymous variant G/A snv 0.46 0.43 0.010 1.000 1 2016 2016
dbSNP: rs1892534
rs1892534
LEPR
7 0.925 0.120 1 65640261 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs2292910
rs2292910
CRY2
3 1.000 0.080 11 45882062 3 prime UTR variant A/C snv 0.66 0.010 1.000 1 2016 2016