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: rs867120336
rs867120336
2 1.000 0.040 2 10048589 frameshift variant -/A delins 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 < 0.001 1 2017 2017
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: rs10946398
rs10946398
7 0.827 0.160 6 20660803 intron variant A/C snv 0.40 0.020 1.000 2 2011 2019
dbSNP: rs2275703
rs2275703
3 0.925 0.080 1 160195305 intron variant A/C snv 0.38 0.020 0.500 2 2007 2013
dbSNP: rs113296370
rs113296370
3 1.000 0.040 2 43636315 upstream gene variant A/C snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs1333048
rs1333048
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs16860234
rs16860234
3 0.925 0.080 3 185793096 intron variant A/C snv 0.33 0.010 1.000 1 2012 2012
dbSNP: rs2980853
rs2980853
16 0.851 0.120 8 125466108 upstream gene variant A/C snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs3134069
rs3134069
11 0.776 0.320 8 118952749 upstream gene variant A/C snv 9.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs3745297
rs3745297
HRC
10 0.790 0.120 19 49154952 missense variant A/C snv 0.41 0.38 0.010 1.000 1 2019 2019
dbSNP: rs4833103
rs4833103
5 0.925 0.160 4 38813881 intron variant A/C snv 0.64 0.700 1.000 1 2018 2018
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 2011 2011
dbSNP: rs1044498
rs1044498
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 1.000 1 2011 2011
dbSNP: rs2236513
rs2236513
2 1.000 0.040 17 17844052 3 prime UTR variant A/C;G snv 0.58 0.010 1.000 1 2006 2006
dbSNP: rs2542713
rs2542713
C9 ; DAB2
3 1.000 0.040 5 39385539 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs497309
rs497309
5 0.882 0.240 6 31924707 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs6688849
rs6688849
2 1.000 0.040 1 47530532 intergenic variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs779271027
rs779271027
2 1.000 0.040 20 44413723 missense variant A/C;G snv 4.0E-06; 8.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 < 0.001 1 2002 2002
dbSNP: rs1042615
rs1042615
2 1.000 0.040 12 63150429 missense variant A/C;G;T snv 0.60; 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs1800783
rs1800783
7 0.827 0.280 7 150992309 intron variant A/C;G;T snv 0.010 1.000 1 2016 2016
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 2015 2015
dbSNP: rs28936379
rs28936379
10 0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 1 1999 1999
dbSNP: rs1169288
rs1169288
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.050 1.000 5 2008 2019