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: rs397514540
rs397514540
FTL
1 1.000 0.080 19 48965596 missense variant C/A;T snv 4.0E-06; 1.2E-05 0.800 1.000 1 2009 2009
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: rs1555796939
rs1555796939
FTL
1 1.000 0.080 19 48965318 5 prime UTR variant GGTCCCGCGGGTCTGTCTCTTGCTTCAAC/- delins 0.700 0
dbSNP: rs398124633
rs398124633
FTL
1 1.000 0.080 19 48965348 5 prime UTR variant A/G snv 0.700 0
dbSNP: rs398124634
rs398124634
FTL
1 1.000 0.080 19 48965349 5 prime UTR variant G/C snv 0.700 0
dbSNP: rs398124635
rs398124635
FTL
1 1.000 0.080 19 48965340 5 prime UTR variant G/A;C;T snv 0.700 0
dbSNP: rs398124636
rs398124636
FTL
1 1.000 0.080 19 48965347 5 prime UTR variant C/T snv 0.700 0
dbSNP: rs398124638
rs398124638
FTL
1 1.000 0.080 19 48965359 5 prime UTR variant G/C snv 0.700 0
dbSNP: rs398124639
rs398124639
FTL
1 1.000 0.080 19 48965330 5 prime UTR variant GTCTCT/- delins 0.700 0
dbSNP: rs777441702
rs777441702
GCNT2
2 0.925 0.080 6 10621360 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2011 2011