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: rs727504433
rs727504433
ELN
1 1.000 0.040 7 74056324 frameshift variant G/- delins 0.700 0
dbSNP: rs727504434
rs727504434
ELN
1 1.000 0.040 7 74051922 splice acceptor variant A/C;G snv 0.700 0
dbSNP: rs727504581
rs727504581
ELN
1 1.000 0.040 7 74046730 frameshift variant C/- delins 0.700 0
dbSNP: rs730880355
rs730880355
ELN
1 1.000 0.040 7 74054730 frameshift variant -/A delins 0.700 0
dbSNP: rs878854452
rs878854452
ELN
1 1.000 0.040 7 74043156 frameshift variant G/- delins 0.700 0
dbSNP: rs397516433
rs397516433
ELN
1 1.000 0.040 7 74051747 splice region variant C/G;T snv 1.2E-05 0.700 1.000 3 1997 2007
dbSNP: rs137854452
rs137854452
ELN
1 1.000 0.040 7 74056680 stop gained C/T snv 0.700 1.000 2 1997 2000
dbSNP: rs727503030
rs727503030
ELN
6 0.925 0.040 7 74054770 splice donor variant G/A snv 6.0E-05 6.3E-05 0.700 1.000 2 1997 2000
dbSNP: rs727503027
rs727503027
ELN
1 1.000 0.040 7 74051748 splice acceptor variant A/G snv 0.700 1.000 1 1997 1997
dbSNP: rs727503783
rs727503783
ELN ; ELN-AS1
1 1.000 0.040 7 74060495 frameshift variant G/- delins 0.700 1.000 1 1997 1997
dbSNP: rs1554672602
rs1554672602
ELN
1 1.000 0.040 7 74046768 splice donor variant GT/AG mnv 0.700 1.000 1 2000 2000
dbSNP: rs1563793627
rs1563793627
ELN
1 1.000 0.040 7 74045182 splice acceptor variant CCTGCCTTCCTACACTCACTGCTTTGTCCCCCGGCAGG/- delins 0.700 1.000 1 2000 2000
dbSNP: rs863223518
rs863223518
ELN
1 1.000 0.040 7 74028189 start lost T/C snv 0.700 1.000 1 2012 2012