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: rs1031919395
rs1031919395
FH
1 1.000 0.200 1 241519658 stop gained A/C;T snv 0.700 1.000 2 2011 2016
dbSNP: rs1057517734
rs1057517734
FH
1 1.000 0.200 1 241504041 splice donor variant C/A snv 0.700 1.000 2 2002 2011
dbSNP: rs1057524385
rs1057524385
FH
1 1.000 0.200 1 241504227 missense variant G/C snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1060499630
rs1060499630
FH
4 0.882 0.320 1 241513659 stop gained G/A snv 0.700 0
dbSNP: rs1060499641
rs1060499641
FH
3 0.925 0.320 1 241504109 frameshift variant A/- del 0.700 0
dbSNP: rs1060499642
rs1060499642
FH
2 0.925 0.320 1 241504087 stop gained C/A snv 0.700 0
dbSNP: rs1060500883
rs1060500883
FH
2 1.000 0.200 1 241517245 stop gained A/T snv 0.700 0
dbSNP: rs1060500896
rs1060500896
FH
2 1.000 0.200 1 241504098 stop gained G/A;C;T snv 4.0E-06 0.700 0
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: rs1060500903
rs1060500903
FH
1 1.000 0.200 1 241500480 frameshift variant C/- del 0.700 0
dbSNP: rs1060500904
rs1060500904
FH
1 1.000 0.200 1 241502567 frameshift variant T/- delins 0.700 0
dbSNP: rs1060500907
rs1060500907
FH
1 1.000 0.200 1 241497873 frameshift variant CTGCT/- delins 0.700 1.000 2 1998 2011
dbSNP: rs1064796708
rs1064796708
FH
1 1.000 0.200 1 241497916 stop gained A/C snv 0.700 0
dbSNP: rs1131691243
rs1131691243
FH
2 1.000 0.200 1 241506168 stop gained C/A snv 0.700 0
dbSNP: rs1131691246
rs1131691246
FH
2 1.000 0.200 1 241517271 stop gained -/TTCA delins 0.700 0
dbSNP: rs1131691249
rs1131691249
FH
2 1.000 0.200 1 241502442 splice donor variant C/G;T snv 0.700 1.000 2 2002 2011
dbSNP: rs11545654
rs11545654
FH
2 1.000 0.200 1 241512085 missense variant C/T snv 0.700 0
dbSNP: rs11545655
rs11545655
FH
1 1.000 0.200 1 241504129 missense variant C/G;T snv 0.700 0
dbSNP: rs11545658
rs11545658
FH
1 1.000 0.200 1 241508662 stop gained G/A snv 0.700 0
dbSNP: rs121913118
rs121913118
FH
1 1.000 0.200 1 241504228 missense variant C/T snv 0.700 1.000 1 1998 1998
dbSNP: rs121913119
rs121913119
FH
2 0.925 0.320 1 241504066 missense variant C/G snv 0.700 0
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: rs121913121
rs121913121
FH
6 0.851 0.320 1 241513661 missense variant T/G snv 0.700 0
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