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: rs121918283
rs121918283
BEST1 ; LOC107984334
1 1.000 0.080 11 61959511 inframe deletion TCA/- delins 7.0E-06 0.700 0
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: 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: rs281865528
rs281865528
FTH1 ; BEST1
1 1.000 0.080 11 61962622 frameshift variant CA/- delins 0.700 0
dbSNP: rs672601356
rs672601356
BEST1 ; LOC107984334
1 1.000 0.080 11 61955124 frameshift variant -/CA delins 0.700 0
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: 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: 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: 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: rs281865218
rs281865218
BEST1
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: rs281865238
rs281865238
BEST1 ; LOC107984334
4 0.851 0.080 11 61957402 missense variant C/A;T snv 0.800 1.000 20 1998 2019
dbSNP: rs28940274
rs28940274
BEST1 ; LOC107984334
1 1.000 0.080 11 61955723 missense variant T/C snv 0.810 1.000 20 1998 2019
dbSNP: rs28941469
rs28941469
BEST1 ; LOC107984334
1 1.000 0.080 11 61957429 missense variant T/A snv 0.810 1.000 20 1998 2019
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: rs281865205
rs281865205
BEST1
1 1.000 0.080 11 61951832 missense variant T/C;G snv 0.800 1.000 19 1998 2012
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: rs281865223
rs281865223
BEST1 ; LOC107984334
2 0.925 0.080 11 61955742 missense variant C/A;T snv 6.9E-06 0.710 1.000 19 1998 2018
dbSNP: rs281865239
rs281865239
BEST1 ; LOC107984334
3 0.882 0.080 11 61957403 missense variant G/A snv 1.2E-05 1.4E-05 0.810 1.000 19 1998 2015
dbSNP: rs281865258
rs281865258
BEST1 ; LOC107984334
2 0.925 0.080 11 61959528 missense variant G/A snv 0.710 1.000 19 1998 2019
dbSNP: rs281865265
rs281865265
BEST1 ; LOC107984334
1 1.000 0.080 11 61959544 missense variant T/C snv 0.710 1.000 19 1998 2011
dbSNP: rs281865267
rs281865267
BEST1 ; LOC107984334
1 1.000 0.080 11 61959548 missense variant G/C snv 0.710 1.000 19 1998 2015
dbSNP: rs28940275
rs28940275
BEST1
1 1.000 0.080 11 61951822 missense variant A/C snv 0.800 1.000 19 1998 2012
dbSNP: rs28940276
rs28940276
BEST1
1 1.000 0.080 11 61951831 missense variant G/A snv 0.800 1.000 19 1998 2012
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: rs28940570
rs28940570
BEST1 ; LOC107984334
1 1.000 0.080 11 61958159 missense variant C/T snv 4.0E-06 0.810 1.000 19 1998 2019