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: rs672601356
rs672601356
1 1.000 0.080 11 61955124 frameshift variant -/CA delins 0.700 0
dbSNP: rs28940275
rs28940275
1 1.000 0.080 11 61951822 missense variant A/C snv 0.800 1.000 19 1998 2012
dbSNP: rs281865254
rs281865254
1 1.000 0.080 11 61959516 missense variant A/C snv 0.700 1.000 18 1998 2011
dbSNP: rs713993045
rs713993045
2 0.925 0.080 6 76018812 missense variant A/C snv 0.010 1.000 1 2013 2013
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 2017 2017
dbSNP: rs281865218
rs281865218
1 1.000 0.080 11 61951895 missense variant A/G snv 4.0E-06 7.0E-06 0.800 1.000 20 1998 2012
dbSNP: rs281865255
rs281865255
2 0.925 0.080 11 61959517 missense variant A/G snv 0.800 1.000 18 1998 2011
dbSNP: rs281865266
rs281865266
1 1.000 0.080 11 61959547 missense variant A/G snv 0.700 1.000 18 1998 2011
dbSNP: rs281865268
rs281865268
1 1.000 0.080 11 61959549 missense variant A/G snv 0.700 1.000 18 1998 2011
dbSNP: rs281865270
rs281865270
1 1.000 0.080 11 61959553 missense variant A/G snv 0.700 1.000 18 1998 2011
dbSNP: rs16863247
rs16863247
2 0.925 0.160 1 162535706 regulatory region variant A/G snv 4.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2011 2011
dbSNP: rs706816
rs706816
1 1.000 0.080 12 51919180 missense variant A/G snv 0.26 0.31 0.010 1.000 1 2016 2016
dbSNP: rs1555099968
rs1555099968
1 1.000 0.080 11 61956897 missense variant A/G snv 0.700 0
dbSNP: rs1565382549
rs1565382549
1 1.000 0.080 11 61951892 missense variant A/G snv 0.700 0
dbSNP: rs267606677
rs267606677
2 0.925 0.080 11 61957430 missense variant A/G snv 0.700 0
dbSNP: rs281865208
rs281865208
1 1.000 0.080 11 61951838 missense variant A/G;T snv 4.0E-06 0.700 1.000 18 1998 2011
dbSNP: rs281865263
rs281865263
1 1.000 0.080 11 61959535 missense variant A/G;T snv 0.700 1.000 18 1998 2011
dbSNP: rs281865529
rs281865529
1 1.000 0.080 11 61955127 missense variant A/T snv 0.700 1.000 18 1998 2011
dbSNP: rs281865221
rs281865221
1 1.000 0.080 11 61955194 missense variant C/A snv 0.700 1.000 18 1998 2011
dbSNP: rs281865229
rs281865229
1 1.000 0.080 11 61955771 missense variant C/A snv 0.700 1.000 18 1998 2011
dbSNP: rs281865232
rs281865232
1 1.000 0.080 11 61955782 missense variant C/A snv 0.700 1.000 18 1998 2011
dbSNP: rs281865242
rs281865242
1 1.000 0.080 11 61957420 missense variant C/A snv 0.700 1.000 18 1998 2011
dbSNP: rs281865247
rs281865247
1 1.000 0.080 11 61958153 missense variant C/A snv 0.700 1.000 18 1998 2011
dbSNP: rs281865250
rs281865250
2 0.925 0.080 11 61959507 missense variant C/A snv 0.700 1.000 18 1998 2011