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: rs1553341046
rs1553341046
FH
1 1.000 0.200 1 241504215 missense variant A/C snv 0.800 1.000 1 1998 1998
dbSNP: rs587781682
rs587781682
FH
2 1.000 0.200 1 241508644 missense variant G/A snv 7.0E-06 0.700 1.000 10 1990 2012
dbSNP: rs121913123
rs121913123
FH
4 0.882 0.360 1 241508643 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.700 1.000 8 2002 2012
dbSNP: rs367543046
rs367543046
FH
2 1.000 0.200 1 241497927 inframe insertion -/TTT delins 1.0E-03; 8.0E-06 1.0E-03 0.700 1.000 7 1997 2013
dbSNP: rs752232718
rs752232718
FH
3 0.925 0.320 1 241508652 missense variant T/C snv 4.0E-06 0.700 1.000 7 1998 2016
dbSNP: rs200796606
rs200796606
FH
2 1.000 0.200 1 241502552 missense variant T/G snv 6.4E-05 4.9E-05 0.700 1.000 6 2000 2017
dbSNP: rs121913122
rs121913122
FH
3 0.925 0.320 1 241504123 stop gained G/A snv 4.0E-06 0.700 1.000 5 2002 2015
dbSNP: rs1553340708
rs1553340708
FH
1 1.000 0.200 1 241500575 frameshift variant -/T delins 0.700 1.000 5 1998 2011
dbSNP: rs1558396285
rs1558396285
FH
1 1.000 0.200 1 241500435 splice donor variant A/G snv 0.700 1.000 5 1998 2011
dbSNP: rs398123163
rs398123163
FH
3 0.925 0.320 1 241500534 frameshift variant T/- del 0.700 1.000 5 1998 2011
dbSNP: rs863223994
rs863223994
FH
1 1.000 0.200 1 241497923 frameshift variant -/CCATTTTT delins 0.700 1.000 5 1998 2011
dbSNP: rs121913120
rs121913120
FH
3 0.925 0.320 1 241513680 stop gained G/A snv 7.0E-06 0.700 1.000 4 2002 2015
dbSNP: rs1553340686
rs1553340686
FH
1 1.000 0.200 1 241500490 frameshift variant -/ATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTCTG delins 0.700 1.000 4 2003 2011
dbSNP: rs199822819
rs199822819
FH
3 0.925 0.240 1 241512001 missense variant G/C;T snv 2.0E-05 2.8E-05 0.700 1.000 4 2003 2012
dbSNP: rs398123159
rs398123159
FH
3 0.925 0.320 1 241504130 missense variant A/T snv 1.2E-05 0.700 1.000 4 2003 2015
dbSNP: rs398123168
rs398123168
FH
2 0.925 0.320 1 241504198 missense variant G/A snv 0.700 1.000 4 2003 2011
dbSNP: rs863224004
rs863224004
FH
1 1.000 0.200 1 241504053 missense variant C/T snv 0.700 1.000 4 2003 2011
dbSNP: rs1060500900
rs1060500900
FH
1 1.000 0.200 1 241519682 frameshift variant -/G delins 2.7E-05; 1.4E-05 2.1E-05 0.700 1.000 3 2011 2016
dbSNP: rs1060500901
rs1060500901
FH
1 1.000 0.200 1 241508601 splice donor variant A/G snv 0.700 1.000 3 2002 2017
dbSNP: rs756469140
rs756469140
FH
3 0.925 0.320 1 241504064 frameshift variant CATT/- delins 4.0E-06 0.700 1.000 3 2003 2015
dbSNP: rs797044973
rs797044973
FH
3 0.925 0.320 1 241504246 splice acceptor variant C/G;T snv 0.700 1.000 3 2002 2011
dbSNP: rs863223966
rs863223966
FH
3 0.925 0.320 1 241504057 missense variant T/C snv 0.700 1.000 3 2003 2012
dbSNP: rs863224007
rs863224007
FH
4 0.882 0.320 1 241502490 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 3 2010 2011
dbSNP: rs878853691
rs878853691
FH
2 0.925 0.320 1 241517181 splice donor variant C/G;T snv 0.700 1.000 3 2002 2011
dbSNP: rs1031919395
rs1031919395
FH
1 1.000 0.200 1 241519658 stop gained A/C;T snv 0.700 1.000 2 2011 2016