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: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.900 0.773 22 2006 2020
dbSNP: rs2241880
rs2241880
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.070 1.000 7 2007 2020
dbSNP: rs7134599
rs7134599
2 1.000 0.040 12 68106295 intron variant G/A snv 0.32 0.810 1.000 2 2012 2020
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2020 2020
dbSNP: rs111033623
rs111033623
3 0.925 0.080 X 124365786 stop gained C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs2097432
rs2097432
3 1.000 0.040 6 32622994 TF binding site variant T/C snv 0.27 0.010 1.000 1 2020 2020
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.100 0.917 12 2004 2019
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.080 0.750 8 2005 2019
dbSNP: rs116855232
rs116855232
12 0.742 0.400 13 48045719 missense variant C/T snv 2.8E-02 1.1E-02 0.750 1.000 7 2016 2019
dbSNP: rs8005161
rs8005161
5 0.882 0.120 14 88006251 intron variant C/T snv 0.18 0.810 1.000 3 2012 2019
dbSNP: rs10500264
rs10500264
2 1.000 0.080 19 33259408 intergenic variant G/A snv 0.14 0.820 1.000 2 2009 2019
dbSNP: rs2292832
rs2292832
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.020 1.000 2 2016 2019
dbSNP: rs2501432
rs2501432
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.020 0.500 2 2014 2019
dbSNP: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.020 1.000 2 2009 2019
dbSNP: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.020 0.500 2 2014 2019
dbSNP: rs601338
rs601338
19 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.020 0.500 2 2012 2019
dbSNP: rs6785049
rs6785049
4 0.882 0.080 3 119814886 intron variant G/A;T snv 0.46 0.020 1.000 2 2017 2019
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.020 1.000 2 2011 2019
dbSNP: rs879761216
rs879761216
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.020 0.500 2 2014 2019
dbSNP: rs11969064
rs11969064
2 6 18104864 intergenic variant C/T snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs200550971
rs200550971
3 0.925 0.040 6 88144985 missense variant T/C snv 3.6E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs2413739
rs2413739
6 0.827 0.120 22 43001030 intron variant C/T snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs3129891
rs3129891
5 0.851 0.160 6 32447303 downstream gene variant G/A snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs34436714
rs34436714
7 0.851 0.120 19 53824059 missense variant C/A;T snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs5743611
rs5743611
7 0.807 0.160 4 38798593 missense variant C/G snv 6.9E-02 7.1E-02 0.010 1.000 1 2019 2019