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: 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: 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: 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: rs863223518
rs863223518
ELN
1 1.000 0.040 7 74028189 start lost T/C snv 0.700 1.000 1 2012 2012
dbSNP: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
dbSNP: rs137854453
rs137854453
ELN ; ELN-AS1
1 1.000 0.040 7 74060184 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs137854454
rs137854454
ELN
1 1.000 0.040 7 74043901 stop gained C/A;G snv 0.700 0
dbSNP: rs137854455
rs137854455
ELN
1 1.000 0.040 7 74045278 stop gained A/T snv 0.700 0
dbSNP: rs1400530335
rs1400530335
ELN
1 1.000 0.040 7 74048146 stop gained T/A;C snv 0.700 0
dbSNP: rs1554666513
rs1554666513
ELN
1 1.000 0.040 7 74037711 frameshift variant G/- delins 0.700 0
dbSNP: rs1554669297
rs1554669297
ELN
1 1.000 0.040 7 74042675 frameshift variant GC/- delins 0.700 0
dbSNP: rs1554669800
rs1554669800
ELN
1 1.000 0.040 7 74043124 frameshift variant T/- del 0.700 0
dbSNP: rs1554672587
rs1554672587
ELN
1 1.000 0.040 7 74046758 stop gained A/T snv 0.700 0
dbSNP: rs1554676454
rs1554676454
ELN
1 1.000 0.040 7 74051978 missense variant A/G snv 0.700 0
dbSNP: rs1554686162
rs1554686162
ELN ; ELN-AS1
1 1.000 0.040 7 74063229 splice region variant G/A;C snv 0.700 0
dbSNP: rs1563826213
rs1563826213
ELN
1 1.000 0.040 7 74053251 frameshift variant C/- delins 0.700 0
dbSNP: rs1563836689
rs1563836689
ELN
1 1.000 0.040 7 74056347 frameshift variant C/- del 0.700 0
dbSNP: rs727503022
rs727503022
ELN
1 1.000 0.040 7 74028228 frameshift variant -/C delins 0.700 0
dbSNP: rs727503023
rs727503023
ELN
1 1.000 0.040 7 74035411 frameshift variant C/- delins 0.700 0
dbSNP: rs727503024
rs727503024
ELN
1 1.000 0.040 7 74043883 frameshift variant G/- delins 0.700 0
dbSNP: rs727503026
rs727503026
ELN
1 1.000 0.040 7 74048195 frameshift variant G/- delins 0.700 0