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: 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: 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: rs1129649
rs1129649
GNB3 ; P3H3
1 1.000 0.080 12 6839304 missense variant T/C snv 0.36 0.36 0.010 1.000 1 2013 2013
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2013 2013
dbSNP: rs706816
rs706816
ACVRL1
1 1.000 0.080 12 51919180 missense variant A/G snv 0.26 0.31 0.010 1.000 1 2016 2016
dbSNP: rs74653691
rs74653691
BEST1 ; LOC107984334
1 1.000 0.080 11 61956981 missense variant C/A snv 3.9E-03 1.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs150247275
rs150247275
BEST1 ; LOC107984334
1 1.000 0.080 11 61956986 synonymous variant G/A snv 1.3E-03 1.1E-03 0.010 1.000 1 2003 2003
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
5 0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04 0.810 1.000 19 1998 2012
dbSNP: rs148060787
rs148060787
FTH1 ; BEST1
5 0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04 0.020 1.000 2 2001 2007
dbSNP: rs200277476
rs200277476
BEST1 ; LOC107984334
2 0.925 0.080 11 61956946 missense variant C/T snv 2.6E-04 1.5E-04 0.720 1.000 2 2017 2019
dbSNP: rs199529046
rs199529046
BEST1 ; LOC107984334
2 0.925 0.080 11 61956964 missense variant T/C;G snv 6.8E-05 0.700 1.000 18 1998 2011
dbSNP: rs752125512
rs752125512
FTH1 ; BEST1
1 1.000 0.080 11 61962569 frameshift variant T/- del 5.6E-05 5.6E-05 0.700 1.000 2 2011 2014
dbSNP: rs563488311
rs563488311
FTH1 ; BEST1 ; LOC107984334
1 1.000 0.080 11 61959980 missense variant C/A;G snv 5.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs281865277
rs281865277
BEST1 ; LOC107984334
2 0.925 0.080 11 61959564 missense variant G/A snv 4.8E-05 7.0E-06 0.700 1.000 18 1998 2011
dbSNP: rs748351421
rs748351421
BEST1 ; LOC107984334
1 1.000 0.080 11 61959566 missense variant C/A snv 3.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs281865214
rs281865214
BEST1
1 1.000 0.080 11 61951879 missense variant C/A;G;T snv 3.2E-05; 4.0E-06; 4.0E-06 0.710 1.000 19 1998 2012
dbSNP: rs199508634
rs199508634
BEST1
1 1.000 0.080 11 61951826 missense variant G/A snv 2.8E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs281865275
rs281865275
BEST1 ; LOC107984334
5 0.851 0.080 11 61957397 missense variant C/G;T snv 8.0E-06; 2.8E-05 0.010 1.000 1 2001 2001
dbSNP: rs1805142
rs1805142
BEST1 ; LOC107984334
5 0.851 0.080 11 61955825 stop gained G/C;T snv 2.7E-05 0.710 1.000 1 2001 2001
dbSNP: rs281865530
rs281865530
BEST1 ; LOC107984334
1 1.000 0.080 11 61955198 missense variant C/G;T snv 2.4E-05 0.700 1.000 18 1998 2011
dbSNP: rs121918288
rs121918288
BEST1
2 0.925 0.080 11 61951928 missense variant T/C snv 2.0E-05 7.0E-06 0.700 1.000 18 1998 2011
dbSNP: rs762398929
rs762398929
FTH1 ; BEST1
2 0.925 0.080 11 61962704 stop gained C/G snv 2.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs28940278
rs28940278
BEST1
2 0.925 0.080 11 61951946 missense variant G/A snv 1.6E-05 0.800 1.000 19 1998 2019
dbSNP: rs765998048
rs765998048
BEST1 ; LOC107984334
2 0.925 0.080 11 61956966 missense variant C/T snv 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs281865209
rs281865209
BEST1
1 1.000 0.080 11 61951844 missense variant G/A;C snv 1.2E-05 0.700 1.000 18 1998 2011