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: rs1064796849
rs1064796849
BEST1
1 1.000 0.080 11 61951919 missense variant T/G snv 0.010 1.000 1 2017 2017
dbSNP: rs11169953
rs11169953
ACVRL1
1 1.000 0.080 12 51910615 intron variant C/T snv 0.36 0.010 1.000 1 2016 2016
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: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1335203485
rs1335203485
BEST1 ; LOC107984334
1 1.000 0.080 11 61955177 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
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: 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: 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: 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: 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: rs374772670
rs374772670
FTH1 ; BEST1
3 0.882 0.160 11 61962313 missense variant G/A snv 8.0E-06 2.8E-05 0.010 1.000 1 2019 2019
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: 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: rs6354
rs6354
SLC6A4
16 0.732 0.280 17 30222880 5 prime UTR variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs6717924
rs6717924
BMPR2
2 0.925 0.160 2 202381581 intron variant G/A snv 0.13 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
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: rs713993045
rs713993045
IMPG1
2 0.925 0.080 6 76018812 missense variant A/C snv 0.010 1.000 1 2013 2013
dbSNP: rs713993049
rs713993049
IMPG2
2 0.925 0.080 3 101232784 missense variant C/A snv 8.0E-06 0.010 1.000 1 2017 2017
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: 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: 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: rs778715415
rs778715415
BEST1 ; LOC107984334
1 1.000 0.080 11 61958235 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs8050136
rs8050136
FTO
32 0.716 0.560 16 53782363 intron variant C/A snv 0.40 0.010 1.000 1 2013 2013
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