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: rs121918283
rs121918283
BEST1 ; LOC107984334
1 1.000 0.080 11 61959511 inframe deletion TCA/- delins 7.0E-06 0.700 0
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: rs121918285
rs121918285
BEST1
1 1.000 0.080 11 61951893 stop gained C/G;T snv 4.0E-06 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 0.700 1.000 18 1998 2011
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: rs137853905
rs137853905
BEST1 ; LOC107984334
1 1.000 0.080 11 61958158 missense variant G/A snv 0.700 1.000 18 1998 2011
dbSNP: rs1445469923
rs1445469923
BEST1 ; LOC107984334
1 1.000 0.080 11 61955809 missense variant C/G snv 6.7E-06 0.700 1.000 18 1998 2011
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: 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: rs1554963058
rs1554963058
BEST1 ; LOC107984334
1 1.000 0.080 11 61959518 missense variant C/A;G snv 0.700 0
dbSNP: rs1554963095
rs1554963095
BEST1 ; LOC107984334
1 1.000 0.080 11 61959540 missense variant G/A snv 0.700 0
dbSNP: rs1555098634
rs1555098634
BEST1 ; LOC107984334
1 1.000 0.080 11 61955195 missense variant G/A snv 0.700 0
dbSNP: rs1555099968
rs1555099968
BEST1 ; LOC107984334
1 1.000 0.080 11 61956897 missense variant A/G snv 0.700 0
dbSNP: rs1565036465
rs1565036465
BEST1 ; LOC107984334
1 1.000 0.080 11 61959545 missense variant T/G snv 0.700 1.000 1 2008 2008
dbSNP: rs1565382549
rs1565382549
BEST1
1 1.000 0.080 11 61951892 missense variant A/G snv 0.700 0
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: 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: rs1805143
rs1805143
BEST1 ; LOC107984334
1 1.000 0.080 11 61959519 missense variant C/G;T snv 4.0E-06 0.800 0
dbSNP: rs1805144
rs1805144
BEST1 ; LOC107984334
1 1.000 0.080 11 61959530 missense variant G/C snv 4.0E-06 0.700 0
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