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: rs398124615
rs398124615
CRB1
5 0.827 0.080 1 197328844 inframe insertion AATTGATGG/-;AATTGATGGAATTGATGG delins 7.7E-04 0.700 1.000 4 2013 2017
dbSNP: rs281865223
rs281865223
BEST1 ; LOC107984334
2 0.925 0.080 11 61955742 missense variant C/A;T snv 6.9E-06 0.010 1.000 1 2018 2018
dbSNP: rs766282189
rs766282189
PLA1A
1 1.000 0.080 3 119613026 missense variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs281865238
rs281865238
BEST1 ; LOC107984334
4 0.851 0.080 11 61957402 missense variant C/A;T snv 0.700 0
dbSNP: rs775283269
rs775283269
BEST1 ; LOC107984334
1 1.000 0.080 11 61957408 stop gained C/A;T snv 8.0E-06; 8.0E-06 0.700 0
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: rs1417478879
rs1417478879
BEST1 ; LOC107984334
1 1.000 0.080 11 61955924 missense variant C/G snv 2.7E-05 7.0E-06 0.700 0
dbSNP: rs1431752515
rs1431752515
BEST1 ; LOC107984334
1 1.000 0.080 11 61957434 missense variant C/G snv 4.0E-06 0.700 0
dbSNP: rs1554964287
rs1554964287
FTH1 ; BEST1
1 1.000 0.080 11 61962524 missense variant C/G snv 0.700 0
dbSNP: rs267606678
rs267606678
BEST1 ; LOC107984334
2 0.925 0.080 11 61955888 missense variant C/G snv 3.3E-05 0.700 0
dbSNP: rs753614067
rs753614067
BEST1 ; LOC107984334
3 1.000 0.080 11 61955870 missense variant C/G snv 3.3E-05 1.4E-05 0.700 0
dbSNP: rs765998048
rs765998048
BEST1 ; LOC107984334
2 0.925 0.080 11 61956966 missense variant C/T snv 1.6E-05 0.710 1.000 6 2008 2019
dbSNP: rs200277476
rs200277476
BEST1 ; LOC107984334
2 0.925 0.080 11 61956946 missense variant C/T snv 2.6E-04 1.5E-04 0.810 1.000 5 2000 2017
dbSNP: rs121918286
rs121918286
BEST1 ; LOC107984334
1 1.000 0.080 11 61956960 stop gained C/T snv 1.2E-05 3.5E-05 0.710 1.000 1 2014 2014
dbSNP: rs771898125
rs771898125
BEST1
1 1.000 0.080 11 61951908 synonymous variant C/T snv 1.2E-05 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs774038422
rs774038422
ERG
2 1.000 0.080 21 38391009 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
5 0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04 0.820 1.000 7 2008 2016
dbSNP: rs121918287
rs121918287
FTH1 ; BEST1 ; LOC107984334
1 1.000 0.080 11 61959892 missense variant G/A snv 0.810 1.000 5 2008 2015
dbSNP: rs281865277
rs281865277
BEST1 ; LOC107984334
2 0.925 0.080 11 61959564 missense variant G/A snv 4.8E-05 7.0E-06 0.710 1.000 5 2008 2015
dbSNP: rs281865258
rs281865258
BEST1 ; LOC107984334
2 0.925 0.080 11 61959528 missense variant G/A snv 0.010 1.000 1 2019 2019
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: rs747083136
rs747083136
ERG
1 1.000 0.080 21 38383818 missense variant G/A snv 2.4E-05 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs28940273
rs28940273
BEST1 ; LOC107984334
2 0.925 0.080 11 61955749 stop gained G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs281865225
rs281865225
BEST1 ; LOC107984334
2 0.925 0.080 11 61955745 missense variant G/A;T snv 0.700 0
dbSNP: rs121918288
rs121918288
BEST1
2 0.925 0.080 11 61951928 missense variant T/C snv 2.0E-05 7.0E-06 0.800 1.000 6 2008 2015