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: rs36217263
rs36217263
KL
4 1.000 0.040 13 33015697 upstream gene variant A/- del 0.21 0.010 1.000 1 2020 2020
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2012 2012
dbSNP: rs2070665
rs2070665
2 11 116836968 intron variant A/C;G snv 0.85 0.010 < 0.001 1 2016 2016
dbSNP: rs3755166
rs3755166
4 1.000 0.080 2 169363371 upstream gene variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs17465637
rs17465637
11 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs4743763
rs4743763
2 1.000 0.040 9 104830901 intron variant A/C;T snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs8192284
rs8192284
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2014 2017
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.030 1.000 3 1999 2006
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.020 1.000 2 2010 2015
dbSNP: rs1260333
rs1260333
12 0.882 0.160 2 27525757 downstream gene variant A/G snv 0.58 0.020 1.000 2 2013 2018
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 1.000 2 2015 2020
dbSNP: rs4646188
rs4646188
4 0.925 0.120 X 15583220 intron variant A/G snv 9.1E-02 0.020 0.500 2 2018 2018
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.020 1.000 2 2017 2019
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.020 1.000 2 1997 2006
dbSNP: rs1265538677
rs1265538677
10 0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1685354
rs1685354
1 11 74002546 intron variant A/G snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2015 2015
dbSNP: rs1984112
rs1984112
8 0.807 0.280 7 80613604 intron variant A/G snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs2106809
rs2106809
8 0.827 0.120 X 15599938 intron variant A/G snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs217434
rs217434
1 7 44513639 synonymous variant A/G snv 0.16 0.17 0.010 1.000 1 2014 2014
dbSNP: rs2187126
rs2187126
2 11 116765068 intron variant A/G snv 4.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs2229268
rs2229268
1 2 169168573 synonymous variant A/G snv 0.20 0.16 0.010 1.000 1 2014 2014
dbSNP: rs35568725
rs35568725
3 0.925 0.080 9 19119676 missense variant A/G snv 4.1E-02 4.0E-02 0.010 1.000 1 2016 2016