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: rs10216653
rs10216653
3 0.882 0.080 8 140516886 3 prime UTR variant G/C snv 0.80 0.010 1.000 1 2017 2017
dbSNP: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 < 0.001 1 2009 2009
dbSNP: rs1061217
rs1061217
3 0.882 0.080 1 160610225 3 prime UTR variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2008 2008
dbSNP: rs1219648
rs1219648
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1429142
rs1429142
3 0.882 0.080 4 147368237 intergenic variant T/C snv 0.34 0.010 1.000 1 2020 2020
dbSNP: rs757343
rs757343
VDR
6 0.807 0.360 12 47845892 intron variant C/T snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2008 2008
dbSNP: rs540245447
rs540245447
3 0.882 0.080 5 55890064 missense variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1353702185
rs1353702185
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121912664
rs121912664
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs771319678
rs771319678
1 1.000 17 7673250 missense variant C/T snv 2.7E-05 0.010 1.000 1 2018 2018
dbSNP: rs372587282
rs372587282
6 0.882 0.080 2 8733598 missense variant G/A;C snv 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 < 0.001 1 2009 2009
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2008 2008
dbSNP: rs2591592
rs2591592
3 0.882 0.080 19 8964670 missense variant T/A snv 0.51 0.51 0.010 1.000 1 2017 2017
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2008 2014
dbSNP: rs8109631
rs8109631
3 0.882 0.080 19 53576890 synonymous variant A/G snv 0.70 0.76 0.010 1.000 1 2017 2017