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: rs114368325
rs114368325
CYP24A1
4 0.925 0.120 20 54158136 missense variant G/A;C snv 6.6E-04; 8.0E-06 0.800 1.000 8 2011 2015
dbSNP: rs6068812
rs6068812
CYP24A1
1 1.000 0.040 20 54158096 missense variant A/G snv 7.5E-04 8.2E-04 0.800 1.000 1 2011 2011
dbSNP: rs387907322
rs387907322
CYP24A1
1 1.000 0.040 20 54171644 missense variant C/G;T snv 1.6E-05; 2.8E-05 0.800 0
dbSNP: rs387907324
rs387907324
CYP24A1
1 1.000 0.040 20 54162743 missense variant C/T snv 2.0E-05 3.5E-05 0.800 0
dbSNP: rs777676129
rs777676129
CYP24A1
1 1.000 0.040 20 54172928 inframe deletion CTT/- delins 5.2E-04 0.700 1.000 14 2011 2016
dbSNP: rs139763321
rs139763321
CYP24A1
1 1.000 0.040 20 54172915 missense variant A/G snv 1.6E-04 1.3E-04 0.700 1.000 3 2013 2016
dbSNP: rs774432244
rs774432244
CYP24A1
1 1.000 0.040 20 54173518 frameshift variant G/- delins 4.2E-05 0.700 1.000 2 2015 2017
dbSNP: rs387907323
rs387907323
CYP24A1
1 1.000 0.040 20 54171669 stop gained C/A snv 0.700 0
dbSNP: rs777947329
rs777947329
CYP24A1
1 1.000 0.040 20 54159075 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs876657376
rs876657376
CYP24A1
1 1.000 0.040 20 54157395 frameshift variant AG/- delins 4.0E-06 0.700 0