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: 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: rs2071375
rs2071375
IL1A
1 1.000 0.080 2 112777861 intron variant C/T snv 0.26 0.010 1.000 1 2012 2012
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: rs2239185
rs2239185
VDR
6 0.807 0.320 12 47850776 intron variant G/A snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs2273061
rs2273061
JAG1
3 1.000 0.080 20 10658895 intron variant G/A snv 0.46 0.010 1.000 1 2011 2011
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs2288377
rs2288377
IGF1 ; LOC105369944
2 0.925 0.080 12 102480984 intron variant A/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs2420946
rs2420946
FGFR2
4 0.851 0.160 10 121591810 intron variant T/C snv 0.56 0.010 1.000 1 2019 2019
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: 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: rs297325
rs297325
SOX6
2 0.925 0.120 11 16368048 intron variant T/C;G snv 0.700 1.000 1 2009 2009
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: 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: rs3130340
rs3130340
TSBP1-AS1
5 0.851 0.200 6 32276850 intron variant T/C snv 0.25 0.010 1.000 1 2011 2011
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: rs3781638
rs3781638
MTNR1B
1 1.000 0.080 11 92980341 intron variant G/T snv 0.56 0.010 1.000 1 2016 2016
dbSNP: rs3782905
rs3782905
VDR
3 0.882 0.200 12 47872384 intron variant G/C snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs3918181
rs3918181
NOS3
2 0.925 0.120 7 151004695 intron variant G/A snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs4756846
rs4756846
SOX6
2 0.925 0.120 11 16381965 intron variant T/C snv 8.8E-02 0.700 1.000 1 2009 2009
dbSNP: rs4869739
rs4869739
CCDC170
2 1.000 0.080 6 151580667 intron variant A/T snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs4870044
rs4870044
CCDC170
3 1.000 0.080 6 151580274 intron variant C/T snv 0.44 0.010 1.000 1 2011 2011
dbSNP: rs491347
rs491347
LRP5
2 0.925 0.200 11 68402220 intron variant G/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs4988235
rs4988235
MCM6
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 1.000 1 2017 2017