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: rs104894685
rs104894685
FTL
4 0.925 0.120 19 48966317 missense variant G/A snv 4.0E-06 1.4E-05 0.800 1.000 1 2005 2005
dbSNP: rs398124637
rs398124637
FTL
2 0.925 0.120 19 48965344 5 prime UTR variant C/A;T snv 0.700 1.000 8 1990 2013
dbSNP: rs1114167274
rs1114167274
FTL
1 1.000 0.080 19 48966701 frameshift variant -/CT delins 0.700 0
dbSNP: rs398124640
rs398124640
FTL
1 1.000 0.080 19 48966675 frameshift variant -/GGCCCGGAGGCTGGGC delins 0.700 0
dbSNP: rs587776840
rs587776840
FTL
1 1.000 0.080 19 48966664 frameshift variant -/A delins 0.700 0