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: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2010 2010
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs387906546
rs387906546
FH
2 0.925 0.240 1 241517258 missense variant T/G snv 0.010 1.000 1 2006 2006
dbSNP: rs6083471
rs6083471 		3 0.882 0.240 20 24274115 intergenic variant T/C snv 2.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs773382103
rs773382103
FH
1 1.000 0.160 1 241508634 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs80351309
rs80351309
LOC105374370
3 0.882 0.240 4 7076231 regulatory region variant C/T snv 1.1E-03 0.010 1.000 1 2017 2017
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