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: rs61754966
rs61754966
NBN
23 0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 0.720 1.000 2 2004 2014
dbSNP: rs121918661
rs121918661
3 0.882 0.120 5 1294282 missense variant C/T snv 3.2E-04 1.8E-04 0.700 1.000 4 2005 2009
dbSNP: rs121918662
rs121918662
3 0.882 0.120 5 1279341 missense variant C/T snv 7.0E-06 0.700 1.000 4 2005 2009
dbSNP: rs483352771
rs483352771
1 1.000 0.040 5 1272213 missense variant G/A;C;T snv 4.0E-06; 1.2E-05 0.700 1.000 4 2005 2009
dbSNP: rs113993992
rs113993992
3 0.882 0.040 7 66994211 splice donor variant C/G snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs113993993
rs113993993
9 0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03 0.700 0
dbSNP: rs149566858
rs149566858
1 1.000 0.040 5 1278750 missense variant G/A snv 5.2E-05 6.3E-05 0.700 0
dbSNP: rs1553284997
rs1553284997
17 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
dbSNP: rs193302875
rs193302875
1 1.000 0.040 10 70598558 missense variant C/A snv 0.700 0
dbSNP: rs199422294
rs199422294
5 0.827 0.160 5 1280216 missense variant C/T snv 0.700 0
dbSNP: rs199422295
rs199422295
3 0.882 0.120 5 1279376 missense variant C/T snv 0.700 0
dbSNP: rs34094720
rs34094720
3 0.882 0.040 5 1293652 missense variant G/A;T snv 3.3E-03; 6.0E-06 0.700 0
dbSNP: rs587782545
rs587782545
NBN
4 0.882 0.160 8 89947835 stop gained T/A snv 3.9E-05 2.1E-05 0.700 0
dbSNP: rs730881864
rs730881864
NBN
4 0.882 0.160 8 89943297 stop gained G/A;C snv 2.4E-05; 4.0E-05 0.700 0
dbSNP: rs767215758
rs767215758
NBN
4 0.882 0.160 8 89958819 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 1.000 2 2005 2016
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.020 1.000 2 2012 2018
dbSNP: rs10204525
rs10204525
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs10818488
rs10818488
8 0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51 0.010 < 0.001 1 2015 2015
dbSNP: rs11209032
rs11209032
10 0.752 0.400 1 67274409 upstream gene variant G/A snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs1353528671
rs1353528671
1 1.000 0.040 10 88990905 missense variant T/C snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2010 2010
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 < 0.001 1 2011 2011
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 2016 2016