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: rs28377268
rs28377268
PTCH1 ; LOC100507346
2 0.925 0.080 9 95462774 intron variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2981579
rs2981579
FGFR2
8 0.776 0.280 10 121577821 intron variant A/G snv 0.53 0.010 1.000 1 2019 2019
dbSNP: rs312009
rs312009
LRP5
2 0.925 0.080 11 68309770 upstream gene variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs34920465
rs34920465 		9 0.807 0.160 1 22373858 intergenic variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs3755955
rs3755955
IDUA
4 0.925 0.080 4 1000626 missense variant G/A;C snv 0.16; 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs6831280
rs6831280
IDUA
4 0.925 0.080 4 1002377 missense variant G/A;C snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs700518
rs700518
CYP19A1 ; MIR4713HG
13 0.732 0.320 15 51236915 synonymous variant T/C snv 0.43 0.40 0.010 1.000 1 2019 2019
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2019 2019
dbSNP: rs749292
rs749292
CYP19A1 ; MIR4713HG
4 0.851 0.160 15 51266534 intron variant G/A snv 0.44 0.010 1.000 1 2019 2019
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.040 1.000 4 2014 2018
dbSNP: rs35767
rs35767
IGF1 ; LOC105369944
13 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 0.040 1.000 4 2015 2018
dbSNP: rs2073618
rs2073618
TNFRSF11B ; COLEC10
19 0.716 0.480 8 118951813 missense variant G/C snv 0.52 0.60 0.030 0.667 3 2014 2018
dbSNP: rs1230399
rs1230399
DUSP3
1 1.000 0.080 17 43768035 3 prime UTR variant C/T snv 0.66 0.020 1.000 2 2009 2018
dbSNP: rs1800544
rs1800544
ADRA2A
12 0.790 0.160 10 111076745 upstream gene variant G/C snv 0.59 0.020 1.000 2 2015 2018
dbSNP: rs1801197
rs1801197
CALCR
5 0.851 0.240 7 93426441 missense variant A/G snv 0.39 0.36 0.020 1.000 2 2013 2018
dbSNP: rs3751143
rs3751143
P2RX7 ; LOC105370032
12 0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06 0.020 1.000 2 2017 2018
dbSNP: rs1256044
rs1256044
ESR2
1 1.000 0.080 14 64267309 intron variant G/A snv 0.66 0.010 1.000 1 2018 2018
dbSNP: rs1473
rs1473
PUM1
2 0.925 0.120 1 30940072 intron variant G/A snv 6.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs17277372
rs17277372
DNM3
2 0.925 0.120 1 172218334 intron variant A/G snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs2047937
rs2047937
ZNF423
5 0.925 0.120 16 49830880 intron variant C/T snv 0.50 0.010 1.000 1 2018 2018
dbSNP: rs2178950
rs2178950
TRPS1
2 0.925 0.120 8 115640791 intron variant G/C snv 0.51 0.010 1.000 1 2018 2018
dbSNP: rs267607165
rs267607165
TUBB3
18 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs335170
rs335170
PRDM6
2 0.925 0.120 5 123146549 intron variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3759579
rs3759579
MARK3
2 0.925 0.120 14 103384935 upstream gene variant A/G snv 0.55 0.010 1.000 1 2018 2018
dbSNP: rs7117858
rs7117858
LOC102724957
2 1.000 0.080 11 15672916 intron variant G/A;C snv 0.010 1.000 1 2018 2018