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: rs121913123
rs121913123
FH
4 0.882 0.360 1 241508643 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.800 1.000 5 1994 2015
dbSNP: rs121913121
rs121913121
FH
6 0.851 0.320 1 241513661 missense variant T/G snv 0.800 1.000 3 1994 2015
dbSNP: rs779707997
rs779707997
FH
3 0.925 0.320 1 241511968 missense variant T/C;G snv 0.800 1.000 2 2013 2015
dbSNP: rs121913119
rs121913119
FH
2 0.925 0.320 1 241504066 missense variant C/G snv 0.700 1.000 3 1994 2015
dbSNP: rs863224015
rs863224015
FH
2 1.000 0.160 1 241511983 missense variant T/C snv 0.700 1.000 3 1994 2015
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