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: 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: 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: 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: 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: 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: 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: 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: 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: rs1800995
rs1800995
BEST1 ; LOC107984334
5 0.851 0.080 11 61955906 missense variant GC/AA mnv 0.810 1.000 2 2001 2012
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: 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: 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: 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: 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: rs61755797
rs61755797
PRPH2
3 0.882 0.080 6 42704565 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2019 2019
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: rs281865258
rs281865258
BEST1 ; LOC107984334
2 0.925 0.080 11 61959528 missense variant G/A snv 0.710 1.000 19 1998 2019
dbSNP: rs28940273
rs28940273
BEST1 ; LOC107984334
2 0.925 0.080 11 61955749 stop gained G/A;C snv 0.810 1.000 19 1998 2017
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: 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: 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: rs281865225
rs281865225
BEST1 ; LOC107984334
2 0.925 0.080 11 61955745 missense variant G/A;T snv 0.700 1.000 18 1998 2011
dbSNP: rs281865250
rs281865250
BEST1 ; LOC107984334
2 0.925 0.080 11 61959507 missense variant C/A snv 0.700 1.000 18 1998 2011
dbSNP: rs281865255
rs281865255
BEST1 ; LOC107984334
2 0.925 0.080 11 61959517 missense variant A/G snv 0.800 1.000 18 1998 2011
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