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: rs1060499629
rs1060499629
FH
1 1.000 0.160 1 241517172 splice donor variant CCACTTACTG/- delins 0.700 0
dbSNP: rs1060499630
rs1060499630
FH
4 0.882 0.320 1 241513659 stop gained G/A snv 0.700 0
dbSNP: rs1060499631
rs1060499631
FH
1 1.000 0.160 1 241512127 frameshift variant A/- delins 0.700 0
dbSNP: rs1060499633
rs1060499633
FH
1 1.000 0.160 1 241512082 frameshift variant -/T delins 4.0E-06 0.700 0
dbSNP: rs1060499634
rs1060499634
FH
1 1.000 0.160 1 241511998 frameshift variant A/- del 0.700 0
dbSNP: rs1060499635
rs1060499635
FH
2 1.000 0.160 1 241508758 inframe deletion TGCTGT/- delins 0.700 0
dbSNP: rs1060499636
rs1060499636
FH
1 1.000 0.160 1 241508610 missense variant A/C;G snv 0.700 0
dbSNP: rs1060499637
rs1060499637
FH
1 1.000 0.160 1 241506099 frameshift variant A/- del 0.700 0
dbSNP: rs1060499638
rs1060499638
FH
1 1.000 0.160 1 241506087 missense variant C/G 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: rs1060499643
rs1060499643
FH
1 1.000 0.160 1 241502561 missense variant T/A;C snv 0.700 0
dbSNP: rs1060499644
rs1060499644
FH
1 1.000 0.160 1 241502470 frameshift variant A/- delins 0.700 0
dbSNP: rs1060499645
rs1060499645
FH
1 1.000 0.160 1 241497892 frameshift variant C/- delins 0.700 0
dbSNP: rs1064792900
rs1064792900
FH
1 1.000 0.160 1 241508600 splice donor variant TACCTGCCCAAGAGTAAGTG/- del 0.700 0
dbSNP: rs121913120
rs121913120
FH
3 0.925 0.320 1 241513680 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs121913122
rs121913122
FH
3 0.925 0.320 1 241504123 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1553340681
rs1553340681
FH
1 1.000 0.160 1 241500486 frameshift variant -/GTTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTT delins 0.700 0
dbSNP: rs1553341942
rs1553341942
FH
3 0.925 0.320 1 241517209 frameshift variant -/T delins 0.700 0
dbSNP: rs200004220
rs200004220
FH
3 0.925 0.320 1 241500572 missense variant A/G snv 7.3E-06 0.700 0
dbSNP: rs398123159
rs398123159
FH
3 0.925 0.320 1 241504130 missense variant A/T snv 1.2E-05 0.700 0
dbSNP: rs398123160
rs398123160
FH
1 1.000 0.160 1 241502553 stop gained G/A snv 0.700 0
dbSNP: rs398123163
rs398123163
FH
3 0.925 0.320 1 241500534 frameshift variant T/- del 0.700 0
dbSNP: rs398123166
rs398123166
FH
3 0.925 0.320 1 241508781 stop gained G/A;C;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs398123168
rs398123168
FH
2 0.925 0.320 1 241504198 missense variant G/A snv 0.700 0