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: rs267606811
rs267606811
FHL1
1 1.000 0.120 X 136209392 missense variant G/A snv 0.800 1.000 3 2008 2014
dbSNP: rs122458141
rs122458141
FHL1
2 1.000 0.120 X 136208625 missense variant C/G snv 0.800 1.000 1 2014 2014
dbSNP: rs1556639379
rs1556639379
FHL1
1 1.000 0.120 X 136208564 frameshift variant -/G delins 0.700 1.000 3 2008 2012
dbSNP: rs1556639151
rs1556639151
FHL1
1 1.000 0.120 X 136207878 frameshift variant AGCTT/- del 0.700 1.000 1 2009 2009
dbSNP: rs869025431
rs869025431
FHL1
2 0.925 0.160 X 136209946 missense variant G/A;C snv 9.6E-06 0.700 1.000 1 2016 2016
dbSNP: rs1060502840
rs1060502840
FHL1
1 1.000 0.120 X 136206492 frameshift variant G/- del 0.700 0
dbSNP: rs122459149
rs122459149
FHL1
2 0.925 0.120 X 136208578 missense variant T/C snv 0.700 0
dbSNP: rs1556638935
rs1556638935
FHL1
1 1.000 0.120 X 136207170 frameshift variant -/C delins 0.700 0
dbSNP: rs1569530437
rs1569530437
FHL1
1 1.000 0.120 X 136207816 frameshift variant -/ACCG delins 0.700 0
dbSNP: rs1569530588
rs1569530588
FHL1
1 1.000 0.120 X 136208511 frameshift variant GT/- delins 0.700 0
dbSNP: rs786200914
rs786200914
FHL1
1 1.000 0.120 X 136208642 splice donor variant G/A snv 0.700 0